A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1)

The genetic complexity of neurodevelopmental disorders (NDD), combined with a heterogeneous clinical presentation, makes accurate assessment of their molecular bases and pathogenic mechanisms challenging. Our purpose is to reveal the pathogenic variant underlying a complex NDD through identification...

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Detalles Bibliográficos
Autores principales: Da Silva, Jorge Diogo, Oliva-Teles, Natália, Tkachenko, Nataliya, Fino, Joana, Marques, Mariana, Fortuna, Ana Maria, David, Dezso
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9855399/
https://www.ncbi.nlm.nih.gov/pubmed/36672520
http://dx.doi.org/10.3390/biomedicines11010012

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9855399/
https://www.ncbi.nlm.nih.gov/pubmed/36672520
http://dx.doi.org/10.3390/biomedicines11010012

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