Work

Congenital central hypoventilation syndrome: Severe disease caused by co‐occurrence of two PHOX2B variants inherited separately from asymptomatic family members

Year: 2019

Type: article

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.61047

Authors: Yakov Sivan, Amy Zhou, Lawrence J. Jennings, Elizabeth M. Berry‐Kravis, Min Yu, Lili Zhou, Casey M. Rand, Debra E. Weese‐Mayer

Institutions: Tel Aviv University, Sheba Medical Center, Lurie Children's Hospital, Northwestern University, Rush University Medical Center

Language: English

Topic: Neuroscience of respiration and sleep

Subfield: Endocrine and Autonomic Systems

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2912255451

FWCI: 1.242

Cites: 16

Cited by: 14

Related to: 10