Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia-Reference-Cited by-同舟云学术

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Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

Published:2007-08-23 Issue:11 Volume:44 Page:739-744
ISSN:1468-6244
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Saillour Y,Zanni G,Des Portes V,Heron D,Guibaud L,Iba-Zizen M T,Pedespan J L,Poirier K,Castelnau L,Julien C,Franconnet C,Bonthron D,Porteous M E,Chelly J,Bienvenu T

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Cited by 68 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 novel AP1S2 variant causing leaky splicing in X‐linked intellectual disability: Further delineation and intrafamilial variability;American Journal of Medical Genetics Part A;2024-04-29

2. The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact;Fluids and Barriers of the CNS;2024-03-04

3. Acute hydrocephalus;Neurological and Neurosurgical Emergencies;2024

4. The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact;2023-12-04

5. Heterozygous FOXJ1 Mutations Cause Incomplete Ependymal Cell Differentiation and Communicating Hydrocephalus;Cellular and Molecular Neurobiology;2023-08-24

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