Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome-Reference-Cited by-同舟云学术

Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome

Published:2022-11-20 Issue: Volume: Page:
ISSN:0959-9851
Container-title:Clinical Autonomic Research
language:en
Short-container-title:Clin Auton Res

Author:

Slattery Susan M.^ORCID,Perez Iris A.^ORCID,Ceccherini Isabella^ORCID,Chen Maida L.^ORCID,Kurek Kyle C.,Yap Kai Lee^ORCID,Keens Thomas G.,Khaytin Ilya^ORCID,Ballard Heather A.,Sokol Elizabeth A.^ORCID,Mittal Angeli^ORCID,Rand Casey M.,Weese-Mayer Debra E.^ORCID

Funder

Chicago Community Trust

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Endocrine and Autonomic Systems

Link

https://link.springer.com/content/pdf/10.1007/s10286-022-00908-8.pdf

Reference99 articles.

1. Weese-Mayer DE, Rand CM, Khaytin I et al (2021) Congenital central hypoventilation syndrome. In: Adam MP, Mirzaa GM, Pagon RA et al (eds) GeneReviews. University of Washington, Seattle

2. Weese-Mayer DE, Berry-Kravis EM, Ceccherini I et al (2010) An official ATS clinical policy statement: congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir Crit Care Med 181(6):626–644

3. Trang H, Samuels M, Ceccherini I et al (2020) Guidelines for diagnosis and management of congenital central hypoventilation syndrome. Orphanet J Rare Dis 15(1):252–252

4. Amiel J, Laudier B, Attie-Bitach T 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. Weese-Mayer DE, Berry-Kravis EM, Zhou L et al (2003) Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. Am J Med Genet A 123A(3):267–278

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