Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia-Reference-Cited by-同舟云学术

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Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia

Published:2012-02 Issue:2 Volume:55 Page:124-127
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Ballarati Lucia,Cereda Anna,Caselli Rossella,Maitz Silvia,Russo Silvia,Selicorni Angelo,Larizza Lidia,Giardino Daniela

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference17 articles.

1. The epidemiology of mental retardation: challenges and opportunities in the new millennium;Leonard;Ment. Retar. Dev. Disab. Res. Rev.,2002

2. X-linked mental retardation;Ropers;Nat. Rev. Genet.,2005

3. XLMR genes: update 2007;Chiurazzi;Eur. J. Hum. Genet.,2008

4. A systematic, large-scale resequencing screen of X chromosome coding exons in mental retardation;Tarpey;Nat. Genet.,2009

5. X-linked mental retardation: further lumping, splitting and emerging phenotypes;Kleefstra;Clin. Genet.,2005

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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. X-linked hydrocephalus genes: Their proximity to telomeres and high A + T content compared to Parkinson's disease;Experimental Neurology;2023-08

3. MLKL deficiency protects against low-grade, sterile inflammation in aged mice;Cell Death & Differentiation;2023-02-08

4. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy;The American Journal of Human Genetics;2021-07

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