Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the CASK gene were discovered in Chinese females-Reference-Cited by-同舟云学术

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Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the CASK gene were discovered in Chinese females

Published:2021-03-05 Issue:3 Volume:81 Page:277-284
ISSN:0736-5748
Container-title:International Journal of Developmental Neuroscience
language:en
Short-container-title:Int. j. dev. neurosci.

Author:

Zhao Jianhui¹^ORCID,Hou Mei¹,Wang Haiqiao²,Liu Qiuyan¹^ORCID,Sun Dianrong¹,Wei Wei³

Affiliation:

1. Department of Neurology & Rehabilitation Qingdao Women and Children’s Hospital Qingdao P.R. China

2. Department of Traditional Chinese Medicine Renji HospitalSchool of MedicineShanghai Jiaotong University Shanghai P.R. China

3. Kangso Medical Inspection Co, Ltd. Beijing P.R. China

Publisher

Wiley

Subject

Developmental Biology,Developmental Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jdn.10100

Reference28 articles.

1. CASK mutations are frequent in males and cause X‐linked nystagmus and variable XLMR phenotypes;Anna H.;European Journal of Human Genetics,2010

2. Caenorhabditis elegans LIN-2A and mammalian neuronal CASK are prototypical members of a subfamily of MAGUKs (membrane-associated guanylate kinases) characterized by a common kinase-like domain and a guanylate kinase domain predicted to bind ATP

3. A de novo in-frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient

4. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

5. SUMOylation of the MAGUK protein CASK regulates dendritic spinogenesis

Cited by 2 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. CASK Mutation in an Infant with Microcephaly, Pontocerebellar Hypoplasia, and Hearing Loss;Annals of Child Neurology;2022-10-01

2. Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia;Frontiers in Genetics;2022-09-07

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