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

A novel 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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Bibliographic Details
Main Authors: Maria-Christina Antoniou, Thérèse Bouthors, Cheng Xu, Franziska Phan-Hug, Eglantine Elowe-Gruau, Sophie Stoppa-Vaucher, Almer van der Sloot, James Acierno, Daniele Cassatella, Celine Richard, Andrew Dwyer, Nelly Pitteloud, Michael Hauschild
Format: Article
Language:English
Published: Korean Society of Pediatric Endocrinology 2019-03-01
Series:Annals of Pediatric Endocrinology & Metabolism
Subjects:
CHARGE syndrome
Pubertal delay
Novel mutation
Online Access:http://e-apem.org/upload/pdf/apem-2019-24-1-49.pdf

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http://e-apem.org/upload/pdf/apem-2019-24-1-49.pdf

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