Expanding the phenotype of COL4A1-related disorders—Four novel variants-Reference-Cited by-同舟云学术

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Expanding the phenotype of COL4A1-related disorders—Four novel variants

Published:2020-10 Issue:9 Volume:42 Page:639-645
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Nishimura Naoto,Kumaki Tatsuro,Murakami Hiroaki,Enomoto Yumi,Tsurusaki Yoshinori,Tsuji Megumi,Tsuyusaki Yu,Goto Tomohide,Aida Noriko,Kurosawa Kenji

Funder

JSPS

Japan Agency for Medical Research and Development

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference12 articles.

1. Plaisier E, Ronco P. COL4A1-Related Disorders. In: Adam MP, Ardinger HH, Pagon RA, editors. GeneReviews®; 2016.

2. Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly;Yoneda;Ann Neurol,2012

3. Diagnostic image evaluation of hydranencephaly and pictorially similar entities, with emphasis on computed tomography;Dublin;Radiology,1980

4. Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease;Zagaglia;Neurology,2018

5. A novel UBE2A mutation causes X-linked intellectual disability type Nascimento;Tsurusaki;Hum Genome Var,2017

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