- A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay
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Antoniou M, Bouthors T, Xu C, Phan-Hug F, Elowe-Gruau E, Stoppa-Vaucher S, van der Sloot A, Acierno J, Cassatella D, Richard C, Dwyer A, Pitteloud , Hauschild
- KMID: 2447376
- Ann Pediatr Endocrinol Metab.
- 2019 Mar;24(1):49-54.
- doi: 10.6065/apem.2019.24.1.49
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... -
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