Variable phenotype in a novel mutation inPHOX2B-Reference-Cited by-同舟云学术

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Variable phenotype in a novel mutation inPHOX2B

Published:2017-04-19 Issue:6 Volume:173 Page:1705-1709
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Lombardo Rachel C.¹^ORCID,Kramer Elizabeth²,Cnota James F.³,Sawnani Hemant²,Hopkin Robert J.¹

Affiliation:

1. Division of Human Genetics; Cincinnati Children's Hospital and Medical Center; Cincinnati Ohio

2. Division of Pulmonary Medicine; Cincinnati Children's Hospital and Medical Center; Cincinnati Ohio

3. Division of Cardiology; Cincinnati Children's Hospital and Medical Center; Cincinnati Ohio

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference20 articles.

1. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome;Amiel;Nature Genetics,2003

2. A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea;Amimoto;Journal of Clinical Sleep Medicine,2014

3. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype;Berry-Kravis;American Journal of Respiratory and Critical Care Medicine,2006

4. Extreme intra-familial variability of congenital central hypoventilation syndrome: A case series;Bygarski;Journal of Medical Case Reports,2013

5. Congenital central hypoventilation syndrome: Not just another rare disorder;Chen;Paediatric Respiratory Reviews,2004

Cited by 17 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A new nonsense pathogenic variant in exon 1 of PHOX2B leads to the diagnosis of congenital central hypoventilation syndrome with intra-familial variability;Archives de Pédiatrie;2024-09

2. PHOX2B: a diagnostic cornerstone in neurocristopathies and neuroblastomas;Journal of Clinical Pathology;2024-03-08

3. Congenital Central Hypoventilation Syndrome;Pediatric Pulmonology;2023-11-17

4. Comprehensive characterization of the genetic landscape of familial Hirschsprung’s disease;World Journal of Pediatrics;2023-03-01

5. Variable phenotypes in congenital central hypoventilation syndrome with PHOX2B nonpolyalanine repeat mutations;Journal of Clinical Sleep Medicine;2021-10

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