Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in < em > BBS9 < /em >
Curr Issues Mol Biol. 2024 Mar 18;46(3):2566-2575. doi: 10.3390/cimb46030163.ABSTRACTBardet-Biedl syndrome (BBS), one of the most common forms of syndromic inherited retinal diseases (IRDs), is characterized by the combination of retinal degeneration with additional extra-ocular manifestations, including obesity, intellectual disability, kidney disease, polydactyly and other skeletal abnormalities. We observed an Israeli patient with autosomal recessive apparently non-syndromic rod-cone dystrophy (RCD). Extra-ocular findings were limited to epilepsy and dental problems. Genetic analysis with a single molecule molecular inv...
Source: Current Issues in Molecular Biology - March 27, 2024 Category: Molecular Biology Authors: Iris Deitch Sofia Itskov Daan Panneman Aasem Abu Shtaya Tal Saban Yael Goldberg Miriam Ehrenberg Frans P M Cremers Susanne Roosing Tamar Ben-Yosef Source Type: research
Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in < em > BBS9 < /em >
Curr Issues Mol Biol. 2024 Mar 18;46(3):2566-2575. doi: 10.3390/cimb46030163.ABSTRACTBardet-Biedl syndrome (BBS), one of the most common forms of syndromic inherited retinal diseases (IRDs), is characterized by the combination of retinal degeneration with additional extra-ocular manifestations, including obesity, intellectual disability, kidney disease, polydactyly and other skeletal abnormalities. We observed an Israeli patient with autosomal recessive apparently non-syndromic rod-cone dystrophy (RCD). Extra-ocular findings were limited to epilepsy and dental problems. Genetic analysis with a single molecule molecular inv...
Source: Current Issues in Molecular Biology - March 27, 2024 Category: Molecular Biology Authors: Iris Deitch Sofia Itskov Daan Panneman Aasem Abu Shtaya Tal Saban Yael Goldberg Miriam Ehrenberg Frans P M Cremers Susanne Roosing Tamar Ben-Yosef Source Type: research
Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in < em > BBS9 < /em >
Curr Issues Mol Biol. 2024 Mar 18;46(3):2566-2575. doi: 10.3390/cimb46030163.ABSTRACTBardet-Biedl syndrome (BBS), one of the most common forms of syndromic inherited retinal diseases (IRDs), is characterized by the combination of retinal degeneration with additional extra-ocular manifestations, including obesity, intellectual disability, kidney disease, polydactyly and other skeletal abnormalities. We observed an Israeli patient with autosomal recessive apparently non-syndromic rod-cone dystrophy (RCD). Extra-ocular findings were limited to epilepsy and dental problems. Genetic analysis with a single molecule molecular inv...
Source: Current Issues in Molecular Biology - March 27, 2024 Category: Molecular Biology Authors: Iris Deitch Sofia Itskov Daan Panneman Aasem Abu Shtaya Tal Saban Yael Goldberg Miriam Ehrenberg Frans P M Cremers Susanne Roosing Tamar Ben-Yosef Source Type: research
Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in < em > BBS9 < /em >
Curr Issues Mol Biol. 2024 Mar 18;46(3):2566-2575. doi: 10.3390/cimb46030163.ABSTRACTBardet-Biedl syndrome (BBS), one of the most common forms of syndromic inherited retinal diseases (IRDs), is characterized by the combination of retinal degeneration with additional extra-ocular manifestations, including obesity, intellectual disability, kidney disease, polydactyly and other skeletal abnormalities. We observed an Israeli patient with autosomal recessive apparently non-syndromic rod-cone dystrophy (RCD). Extra-ocular findings were limited to epilepsy and dental problems. Genetic analysis with a single molecule molecular inv...
Source: Current Issues in Molecular Biology - March 27, 2024 Category: Molecular Biology Authors: Iris Deitch Sofia Itskov Daan Panneman Aasem Abu Shtaya Tal Saban Yael Goldberg Miriam Ehrenberg Frans P M Cremers Susanne Roosing Tamar Ben-Yosef Source Type: research
Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in < em > BBS9 < /em >
Curr Issues Mol Biol. 2024 Mar 18;46(3):2566-2575. doi: 10.3390/cimb46030163.ABSTRACTBardet-Biedl syndrome (BBS), one of the most common forms of syndromic inherited retinal diseases (IRDs), is characterized by the combination of retinal degeneration with additional extra-ocular manifestations, including obesity, intellectual disability, kidney disease, polydactyly and other skeletal abnormalities. We observed an Israeli patient with autosomal recessive apparently non-syndromic rod-cone dystrophy (RCD). Extra-ocular findings were limited to epilepsy and dental problems. Genetic analysis with a single molecule molecular inv...
Source: Current Issues in Molecular Biology - March 27, 2024 Category: Molecular Biology Authors: Iris Deitch Sofia Itskov Daan Panneman Aasem Abu Shtaya Tal Saban Yael Goldberg Miriam Ehrenberg Frans P M Cremers Susanne Roosing Tamar Ben-Yosef Source Type: research
