Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report
CONCLUSIONS: Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.PMID:37772538 | DOI:10.26444/aaem/163063 (Source: Annals of Agricultural and Environmental Medicine : AAEM)
Source: Annals of Agricultural and Environmental Medicine : AAEM - September 29, 2023 Category: Environmental Health Authors: Gabriela R ęka Katarzyna Wojciechowska Monika Lejman Source Type: research
Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report
CONCLUSIONS: Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.PMID:37772538 | DOI:10.26444/aaem/163063 (Source: Annals of Agricultural and Environmental Medicine : AAEM)
Source: Annals of Agricultural and Environmental Medicine : AAEM - September 29, 2023 Category: Environmental Health Authors: Gabriela R ęka Katarzyna Wojciechowska Monika Lejman Source Type: research
Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report
CONCLUSIONS: Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.PMID:37772538 | DOI:10.26444/aaem/163063 (Source: Annals of Agricultural and Environmental Medicine : AAEM)
Source: Annals of Agricultural and Environmental Medicine : AAEM - September 29, 2023 Category: Environmental Health Authors: Gabriela R ęka Katarzyna Wojciechowska Monika Lejman Source Type: research
Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report
CONCLUSIONS: Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.PMID:37772538 | DOI:10.26444/aaem/163063 (Source: Annals of Agricultural and Environmental Medicine : AAEM)
Source: Annals of Agricultural and Environmental Medicine : AAEM - September 29, 2023 Category: Environmental Health Authors: Gabriela R ęka Katarzyna Wojciechowska Monika Lejman Source Type: research
Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report
CONCLUSIONS: Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.PMID:37772538 | DOI:10.26444/aaem/163063 (Source: Annals of Agricultural and Environmental Medicine : AAEM)
Source: Annals of Agricultural and Environmental Medicine : AAEM - September 29, 2023 Category: Environmental Health Authors: Gabriela R ęka Katarzyna Wojciechowska Monika Lejman Source Type: research
Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report
CONCLUSIONS: Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.PMID:37772538 | DOI:10.26444/aaem/163063 (Source: Annals of Agricultural and Environmental Medicine : AAEM)
Source: Annals of Agricultural and Environmental Medicine : AAEM - September 29, 2023 Category: Environmental Health Authors: Gabriela R ęka Katarzyna Wojciechowska Monika Lejman Source Type: research
Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report
CONCLUSIONS: Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.PMID:37772538 | DOI:10.26444/aaem/163063 (Source: Annals of Agricultural and Environmental Medicine : AAEM)
Source: Annals of Agricultural and Environmental Medicine : AAEM - September 29, 2023 Category: Environmental Health Authors: Gabriela R ęka Katarzyna Wojciechowska Monika Lejman Source Type: research
Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report
CONCLUSIONS: Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.PMID:37772538 | DOI:10.26444/aaem/163063 (Source: Annals of Agricultural and Environmental Medicine : AAEM)
Source: Annals of Agricultural and Environmental Medicine : AAEM - September 29, 2023 Category: Environmental Health Authors: Gabriela R ęka Katarzyna Wojciechowska Monika Lejman Source Type: research
Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report
CONCLUSIONS: Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.PMID:37772538 | DOI:10.26444/aaem/163063 (Source: Annals of Agricultural and Environmental Medicine : AAEM)
Source: Annals of Agricultural and Environmental Medicine : AAEM - September 29, 2023 Category: Environmental Health Authors: Gabriela R ęka Katarzyna Wojciechowska Monika Lejman Source Type: research
Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report
CONCLUSIONS: Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.PMID:37772538 | DOI:10.26444/aaem/163063 (Source: Annals of Agricultural and Environmental Medicine : AAEM)
Source: Annals of Agricultural and Environmental Medicine : AAEM - September 29, 2023 Category: Environmental Health Authors: Gabriela R ęka Katarzyna Wojciechowska Monika Lejman Source Type: research
Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report
CONCLUSIONS: Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.PMID:37772538 | DOI:10.26444/aaem/163063 (Source: Annals of Agricultural and Environmental Medicine : AAEM)
Source: Annals of Agricultural and Environmental Medicine : AAEM - September 29, 2023 Category: Environmental Health Authors: Gabriela R ęka Katarzyna Wojciechowska Monika Lejman Source Type: research
Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report
CONCLUSIONS: Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.PMID:37772538 | DOI:10.26444/aaem/163063 (Source: Annals of Agricultural and Environmental Medicine : AAEM)
Source: Annals of Agricultural and Environmental Medicine : AAEM - September 29, 2023 Category: Environmental Health Authors: Gabriela R ęka Katarzyna Wojciechowska Monika Lejman Source Type: research
Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report
CONCLUSIONS: Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.PMID:37772538 | DOI:10.26444/aaem/163063 (Source: Annals of Agricultural and Environmental Medicine : AAEM)
Source: Annals of Agricultural and Environmental Medicine : AAEM - September 29, 2023 Category: Environmental Health Authors: Gabriela R ęka Katarzyna Wojciechowska Monika Lejman Source Type: research
Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report
CONCLUSIONS: Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.PMID:37772538 | DOI:10.26444/aaem/163063 (Source: Annals of Agricultural and Environmental Medicine : AAEM)
Source: Annals of Agricultural and Environmental Medicine : AAEM - September 29, 2023 Category: Environmental Health Authors: Gabriela R ęka Katarzyna Wojciechowska Monika Lejman Source Type: research
Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report
CONCLUSIONS: Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.PMID:37772538 | DOI:10.26444/aaem/163063 (Source: Annals of Agricultural and Environmental Medicine : AAEM)
Source: Annals of Agricultural and Environmental Medicine : AAEM - September 29, 2023 Category: Environmental Health Authors: Gabriela R ęka Katarzyna Wojciechowska Monika Lejman Source Type: research
