Mutation inMPDZcauses severe congenital hydrocephalus-Reference-Cited by-同舟云学术

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Mutation inMPDZcauses severe congenital hydrocephalus

Published:2012-12-13 Issue:1 Volume:50 Page:54-58
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Al-Dosari Mohammed S,Al-Owain Mohammed,Tulbah Maha,Kurdi Wesam,Adly Nouran,Al-Hemidan Amal,Masoodi Tariq A,Albash Buthainah,Alkuraya Fowzan S

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Cited by 79 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. Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy;Nature Communications;2024-08-22

2. Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature;Clinical Genetics;2024-06-10

3. Expanding the phenotypic spectrum of MPDZ gene variants: A case report with prenatally detected Dandy–Walker malformation and single ventricle heart;Prenatal Diagnosis;2024-05-31

4. Paediatric hydrocephalus;Nature Reviews Disease Primers;2024-05-16

5. Prenatal phenotype of a homozygous nonsense MPDZ variant in a fetus with severe congenital hydrocephalus;Prenatal Diagnosis;2024-03-18

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