Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination-Reference-Cited by-同舟云学术

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Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination

Published:2022-04-19 Issue:4 Volume:31 Page:196-200
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

do Rosario Michelle C.,Kaur Parneet,Girisha Katta Mohan,Bielas Stephanie,Shukla Anju

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference7 articles.

1. Maturation of the human brain and epilepsy.;Holmes;Handb Clin Neurol,2012

2. Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.;Kaur;Clin Genet,2021

3. A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism.;Nguyen;Hum Mutat,2018

4. A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.;Pagnamenta;Hum Mutat,2018

5. PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.;Tremblay-Laganière;Clin Genet,2021

Cited by 1 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. Inherited glycosylphosphatidylinositol deficiency: a review from molecular and clinical perspectives;Acta Biochimica et Biophysica Sinica;2024-07-30

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