A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay

Mutations in the CHD7 gene, encoding for the chromodomain helicase DNA-binding protein 7, are found in approximately 60% of individuals with CHARGE syndrome (coloboma, heart defects, choanal atresia, retarded growth and development, genital hypoplasia, ear abnormalities and/or hearing loss). Herein,...

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Detalles Bibliográficos
Autores principales: Antoniou, Maria-Christina, Bouthors, Thérèse, Xu, Cheng, Phan-Hug, Franziska, Elowe-Gruau, Eglantine, Stoppa-Vaucher, Sophie, van der Sloot, Almer, Acierno, James, Cassatella, Daniele, Richard, Celine, Dwyer, Andrew, Pitteloud, Nelly, Hauschild, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449621/
https://www.ncbi.nlm.nih.gov/pubmed/30943680
http://dx.doi.org/10.6065/apem.2019.24.1.49

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