Hypopigmentation as a diagnostic clue in primary extramammary Paget disease: Case report and short literature review
Australas J Dermatol. 2023 Sep 30. doi: 10.1111/ajd.14167. Online ahead of print.NO ABSTRACTPMID:37776096 | DOI:10.1111/ajd.14167 (Source: The Australasian Journal of Dermatology)
Source: The Australasian Journal of Dermatology - September 30, 2023 Category: Dermatology Authors: Vanessa Mazzoletti Benedetta Sonego Enrico Zelin Giulia Bazzacco Claudio Conforti Francesco Cavallo Alberto Zacchi Nicola Di Meo Iris Zalaudek Source Type: research
Hypopigmentation as a diagnostic clue in primary extramammary Paget disease: Case report and short literature review
Australas J Dermatol. 2023 Sep 30. doi: 10.1111/ajd.14167. Online ahead of print.NO ABSTRACTPMID:37776096 | DOI:10.1111/ajd.14167 (Source: The Australasian Journal of Dermatology)
Source: The Australasian Journal of Dermatology - September 30, 2023 Category: Dermatology Authors: Vanessa Mazzoletti Benedetta Sonego Enrico Zelin Giulia Bazzacco Claudio Conforti Francesco Cavallo Alberto Zacchi Nicola Di Meo Iris Zalaudek Source Type: research
Hypopigmentation as a diagnostic clue in primary extramammary Paget disease: Case report and short literature review
Australas J Dermatol. 2023 Sep 30. doi: 10.1111/ajd.14167. Online ahead of print.NO ABSTRACTPMID:37776096 | DOI:10.1111/ajd.14167 (Source: The Australasian Journal of Dermatology)
Source: The Australasian Journal of Dermatology - September 30, 2023 Category: Dermatology Authors: Vanessa Mazzoletti Benedetta Sonego Enrico Zelin Giulia Bazzacco Claudio Conforti Francesco Cavallo Alberto Zacchi Nicola Di Meo Iris Zalaudek Source Type: research
Multi-dimensional Insight into the Coexistence of Pathogenic Genes for ADAR1 and TSC2: Careful Consideration is Essential for Interpretation of ADAR1 Variants
Biochem Genet. 2023 Sep 23. doi: 10.1007/s10528-023-10488-5. Online ahead of print.ABSTRACTAicardi-Goutières syndrome 6 (AGS6) is a serious auto-immunization-associated acute neurologic decompensation. AGS6 manifests as acute onset of severe generalized dystonia of limbs and developmental regression secondary to febrile illness mostly. Dyschromatosis symmetrica hereditaria (DSH), as pigmentary genodermatosis, is a characterized mixture of hyperpigmented and hypopigmented macules. Both AGS6 and DSH are associated with ADAR1 pathogenic variants. To explore the etiology of a proband with developmental regression with mixture...
Source: Biochemical Genetics - September 23, 2023 Category: Genetics & Stem Cells Authors: Xiangyu Liu Meifang Lei Yan Xue Hong Li Jing Yin Dong Li Jianbo Shu Chunquan Cai Source Type: research
Multi-dimensional Insight into the Coexistence of Pathogenic Genes for ADAR1 and TSC2: Careful Consideration is Essential for Interpretation of ADAR1 Variants
Biochem Genet. 2023 Sep 23. doi: 10.1007/s10528-023-10488-5. Online ahead of print.ABSTRACTAicardi-Goutières syndrome 6 (AGS6) is a serious auto-immunization-associated acute neurologic decompensation. AGS6 manifests as acute onset of severe generalized dystonia of limbs and developmental regression secondary to febrile illness mostly. Dyschromatosis symmetrica hereditaria (DSH), as pigmentary genodermatosis, is a characterized mixture of hyperpigmented and hypopigmented macules. Both AGS6 and DSH are associated with ADAR1 pathogenic variants. To explore the etiology of a proband with developmental regression with mixture...
Source: Biochemical Genetics - September 23, 2023 Category: Genetics & Stem Cells Authors: Xiangyu Liu Meifang Lei Yan Xue Hong Li Jing Yin Dong Li Jianbo Shu Chunquan Cai Source Type: research
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism
In conclusion, blood cell RNA analysis allows testing the potential effect of any OCA2 VUS on transcription products. This should help to elucidate yet unsolved OCA2 patients and improve genetic counseling.PMID:37650133 | DOI:10.1111/pcmr.13123 (Source: Pigment Cell and Melanoma Research)
Source: Pigment Cell and Melanoma Research - August 31, 2023 Category: Cytology Authors: Vincent Michaud Ang èle Sequeira Elina Mercier Eulalie Lasseaux Claudio Plaisant Smail Hadj-Rabia Sandra Whalen Dominique Bonneau Anne Dieux-Coeslier Fanny Morice-Picard Juliette Coursimault Beno ît Arveiler Sophie Javerzat Source Type: research
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism
In conclusion, blood cell RNA analysis allows testing the potential effect of any OCA2 VUS on transcription products. This should help to elucidate yet unsolved OCA2 patients and improve genetic counseling.PMID:37650133 | DOI:10.1111/pcmr.13123 (Source: Cell Research)
Source: Cell Research - August 31, 2023 Category: Cytology Authors: Vincent Michaud Ang èle Sequeira Elina Mercier Eulalie Lasseaux Claudio Plaisant Smail Hadj-Rabia Sandra Whalen Dominique Bonneau Anne Dieux-Coeslier Fanny Morice-Picard Juliette Coursimault Beno ît Arveiler Sophie Javerzat Source Type: research
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism
In conclusion, blood cell RNA analysis allows testing the potential effect of any OCA2 VUS on transcription products. This should help to elucidate yet unsolved OCA2 patients and improve genetic counseling.PMID:37650133 | DOI:10.1111/pcmr.13123 (Source: Pigment Cell and Melanoma Research)
Source: Pigment Cell and Melanoma Research - August 31, 2023 Category: Cytology Authors: Vincent Michaud Ang èle Sequeira Elina Mercier Eulalie Lasseaux Claudio Plaisant Smail Hadj-Rabia Sandra Whalen Dominique Bonneau Anne Dieux-Coeslier Fanny Morice-Picard Juliette Coursimault Beno ît Arveiler Sophie Javerzat Source Type: research
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism
In conclusion, blood cell RNA analysis allows testing the potential effect of any OCA2 VUS on transcription products. This should help to elucidate yet unsolved OCA2 patients and improve genetic counseling.PMID:37650133 | DOI:10.1111/pcmr.13123 (Source: Pigment Cell and Melanoma Research)
Source: Pigment Cell and Melanoma Research - August 31, 2023 Category: Cytology Authors: Vincent Michaud Ang èle Sequeira Elina Mercier Eulalie Lasseaux Claudio Plaisant Smail Hadj-Rabia Sandra Whalen Dominique Bonneau Anne Dieux-Coeslier Fanny Morice-Picard Juliette Coursimault Beno ît Arveiler Sophie Javerzat Source Type: research
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism
In conclusion, blood cell RNA analysis allows testing the potential effect of any OCA2 VUS on transcription products. This should help to elucidate yet unsolved OCA2 patients and improve genetic counseling.PMID:37650133 | DOI:10.1111/pcmr.13123 (Source: Pigment Cell and Melanoma Research)
Source: Pigment Cell and Melanoma Research - August 31, 2023 Category: Cytology Authors: Vincent Michaud Ang èle Sequeira Elina Mercier Eulalie Lasseaux Claudio Plaisant Smail Hadj-Rabia Sandra Whalen Dominique Bonneau Anne Dieux-Coeslier Fanny Morice-Picard Juliette Coursimault Beno ît Arveiler Sophie Javerzat Source Type: research
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism
In conclusion, blood cell RNA analysis allows testing the potential effect of any OCA2 VUS on transcription products. This should help to elucidate yet unsolved OCA2 patients and improve genetic counseling.PMID:37650133 | DOI:10.1111/pcmr.13123 (Source: Pigment Cell and Melanoma Research)
Source: Pigment Cell and Melanoma Research - August 31, 2023 Category: Cytology Authors: Vincent Michaud Ang èle Sequeira Elina Mercier Eulalie Lasseaux Claudio Plaisant Smail Hadj-Rabia Sandra Whalen Dominique Bonneau Anne Dieux-Coeslier Fanny Morice-Picard Juliette Coursimault Beno ît Arveiler Sophie Javerzat Source Type: research
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism
In conclusion, blood cell RNA analysis allows testing the potential effect of any OCA2 VUS on transcription products. This should help to elucidate yet unsolved OCA2 patients and improve genetic counseling.PMID:37650133 | DOI:10.1111/pcmr.13123 (Source: Pigment Cell and Melanoma Research)
Source: Pigment Cell and Melanoma Research - August 31, 2023 Category: Cytology Authors: Vincent Michaud Ang èle Sequeira Elina Mercier Eulalie Lasseaux Claudio Plaisant Smail Hadj-Rabia Sandra Whalen Dominique Bonneau Anne Dieux-Coeslier Fanny Morice-Picard Juliette Coursimault Beno ît Arveiler Sophie Javerzat Source Type: research
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism
In conclusion, blood cell RNA analysis allows testing the potential effect of any OCA2 VUS on transcription products. This should help to elucidate yet unsolved OCA2 patients and improve genetic counseling.PMID:37650133 | DOI:10.1111/pcmr.13123 (Source: Pigment Cell and Melanoma Research)
Source: Pigment Cell and Melanoma Research - August 31, 2023 Category: Cytology Authors: Vincent Michaud Ang èle Sequeira Elina Mercier Eulalie Lasseaux Claudio Plaisant Smail Hadj-Rabia Sandra Whalen Dominique Bonneau Anne Dieux-Coeslier Fanny Morice-Picard Juliette Coursimault Beno ît Arveiler Sophie Javerzat Source Type: research
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism
In conclusion, blood cell RNA analysis allows testing the potential effect of any OCA2 VUS on transcription products. This should help to elucidate yet unsolved OCA2 patients and improve genetic counseling.PMID:37650133 | DOI:10.1111/pcmr.13123 (Source: Pigment Cell and Melanoma Research)
Source: Pigment Cell and Melanoma Research - August 31, 2023 Category: Cytology Authors: Vincent Michaud Ang èle Sequeira Elina Mercier Eulalie Lasseaux Claudio Plaisant Smail Hadj-Rabia Sandra Whalen Dominique Bonneau Anne Dieux-Coeslier Fanny Morice-Picard Juliette Coursimault Beno ît Arveiler Sophie Javerzat Source Type: research
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism
In conclusion, blood cell RNA analysis allows testing the potential effect of any OCA2 VUS on transcription products. This should help to elucidate yet unsolved OCA2 patients and improve genetic counseling.PMID:37650133 | DOI:10.1111/pcmr.13123 (Source: Pigment Cell and Melanoma Research)
Source: Pigment Cell and Melanoma Research - August 31, 2023 Category: Cytology Authors: Vincent Michaud Ang èle Sequeira Elina Mercier Eulalie Lasseaux Claudio Plaisant Smail Hadj-Rabia Sandra Whalen Dominique Bonneau Anne Dieux-Coeslier Fanny Morice-Picard Juliette Coursimault Beno ît Arveiler Sophie Javerzat Source Type: research
