De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome

CHARGE syndrome is an autosomal dominant developmental disorder associated with a constellation of traits involving almost every organ and sensory system, in particular congenital anomalies, including choanal atresia and malformations of the heart, inner ear, and retina. Variants in CHD7 have been s...

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Detalles Bibliográficos
Autores principales: Pranckėnienė, Laura, Preikšaitienė, Eglė, Gueneau, Lucie, Reymond, Alexandre, Kučinskas, Vaidutis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6446253/
https://www.ncbi.nlm.nih.gov/pubmed/31043788
http://dx.doi.org/10.1177/1178631019839010

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6446253/
https://www.ncbi.nlm.nih.gov/pubmed/31043788
http://dx.doi.org/10.1177/1178631019839010

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