Mutations inMYO1Hcause a recessive form of central hypoventilation with autonomic dysfunction-Reference-Cited by-同舟云学术

Mutations inMYO1Hcause a recessive form of central hypoventilation with autonomic dysfunction

Published:2017-08-04 Issue:11 Volume:54 Page:754-761
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Spielmann Malte,Hernandez-Miranda Luis R,Ceccherini Isabella,Weese-Mayer Debra E,Kragesteen Bjørt K,Harabula Izabela,Krawitz Peter,Birchmeier Carmen,Leonard Norma,Mundlos Stefan

Funder

FP7 People: Marie-Curie Actions

Deutsche Forschungsgemeinschaft

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference32 articles.

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2. Residual chemosensitivity to ventilatory challenges in genotyped congenital central hypoventilation syndrome;Carroll;J Appl Physiol,2014

3. Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome;Weese-Mayer;Am J Med Genet,2001

4. Genetic segregation analysis of autonomic nervous system dysfunction in families of probands with idiopathic congenital central hypoventilation syndrome;Marazita;Am J Med Genet,2001

5. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome;Amiel;Nat Genet,2003

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