Genetic study of a patient with congenital central hypoventilation syndrome in Iran: a case report-Reference-Cited by-同舟云学术

Genetic study of a patient with congenital central hypoventilation syndrome in Iran: a case report

Published:2021-10-09 Issue:12 Volume:48 Page:8239-8243
ISSN:0301-4851
Container-title:Molecular Biology Reports
language:en
Short-container-title:Mol Biol Rep

Author:

Khorasanian Reihaneh,Mojbafan Marzieh,Khosravi Nastaran

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s11033-021-06746-7.pdf

Reference22 articles.

1. Bishara J, Keens TG, Perez IA (2018) The genetics of congenital central hypoventilation syndrome: clinical implications. Appl Clin Genet 11:135–144

2. Hammel M, Klein M, Trips T, Priessmann H, Ankermann T, Holzinger A (2009) Congenital central hypoventilation syndrome due to PHOX2b gene defects: inheritance from asymptomatic parents. Klin Padiatr 221(5):286–289

3. Weese-Mayer DE, Marazita ML, Rand CM, Berry-Kravis EM, Classic C (2011) Congenital central hypoventilation syndrome. Sleep in childhood neurological disorders. 295–312.

4. Amiel J, Laudier B, Attié-Bitach T, Trang H, de Pontual L, Gener B et al (2003) Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet 33(4):459–461

5. Repetto GM, Corrales RJ, Abara SG, Zhou L, Berry-Kravis EM, Rand CM et al (2009) Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. Acta Paediatr 98(1):192–195

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