HIDEA syndrome: A rare cause of congenital hypoventilation in a premature infant-Reference-Cited by-同舟云学术

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HIDEA syndrome: A rare cause of congenital hypoventilation in a premature infant

Published:2022-05-21 Issue:7 Volume:57 Page:1826-1829
ISSN:8755-6863
Container-title:Pediatric Pulmonology
language:en
Short-container-title:Pediatric Pulmonology

Author:

Lim Alicia May¹,Tan Pih Lin¹,Visruthan Nirmal Kavalloor¹,Fong Nikki²,Viegelmann Guadalupe Cara³,Tan Yi Hua⁴^ORCID

Affiliation:

1. Department of Neonatology KK Women's & Children's Hospital Singapore Singapore

2. Department of Paediatrics, Genetics Service KK Women's & Children's Hospital Singapore Singapore

3. Department of Paediatrics, General Paediatrics Service KK Women's & Children's Hospital Singapore Singapore

4. Department of Paediatrics, Respiratory Medicine Service KK Women's & Children's Hospital Singapore Singapore

Publisher

Wiley

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ppul.25966

Reference10 articles.

1. Guidelines for diagnosis and management of congenital central hypoventilation syndrome

2. Immature control of breathing and apnea of prematurity: the known and unknown

3. Congenital central hypoventilation syndrome mimicking mitochondrial disease

4. Section 11: Central hypoventilation, congenital and acquired

5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Cited by 3 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 pathogenic P4HTM gene variant in two brothers with autism spectrum disorder;Psychiatric Genetics;2024-02-26

2. HIDEA syndrome: A new case report highlighting similarities with ROHHAD syndrome;Frontiers in Genetics;2023-03-22

3. HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H‐TM protein;Clinical Genetics;2022-08-19

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