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

• Main Authors: Maria-Christina Antoniou (Author), Thérèse Bouthors (Author), Cheng Xu (Author), Franziska Phan-Hug (Author), Eglantine Elowe-Gruau (Author), Sophie Stoppa-Vaucher (Author), Almer van der Sloot (Author), James Acierno (Author), Daniele Cassatella (Author), Celine Richard (Author), Andrew Dwyer (Author), Nelly Pitteloud (Author), Michael Hauschild (Author)
• Format: Book
• Published: Korean Society of Pediatric Endocrinology, 2019-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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,...