- 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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- Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8
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Mouron-Hryciuk J, Stoppa-Vaucher S, Busiah K, Bouthors T, Antoniou MC, Jacot E, Brusgaard K, Christesen HT, Hussain K, Dwyer A, Roth-Kleiner M, Hauschild M
- KMID: 2514154
- Ann Pediatr Endocrinol Metab.
- 2021 Mar;26(1):60-65.
- doi: 10.6065/apem.2040042.021
Congenital hyperinsulinism (CHI) is a rare glucose metabolism disorder characterized by unregulated secretion of insulin that leads to hyperinsulinemic hypoglycemia (HH). Most cases are caused by mutations in the KATP-channel... -
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