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

Journal of Medical Genetics - United Kingdom
doi 10.1136/jmg.2007.051334
Full Text
Abstract

Available in full text

Categories
Genetics
Date
Authors
Publisher

BMJ

Related search

Mutations in the ZNF41 Gene Are Associated With Cognitive Deficits: Identification of a New Candidate for X-Linked Mental Retardation

American Journal of Human Genetics
Genetics
2003English

Five Novel Mutations in the L1CAM Gene in Families With X Linked Hydrocephalus.

Journal of Medical Genetics
Genetics
1996English

Linkage Mapping of a New Syndromic Form of X-Linked Mental Retardation, MRXS7, Associated With Obesity

European Journal of Human Genetics
Genetics
1999English

Mental Retardation Linked to Mutations in the HSD17B10 Gene Interfering With Neurosteroid and Isoleucine Metabolism

Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
2009English

A Novel Splice Site Mutation in AP1S2 Gene for X-Linked Mental Retardation in a Chinese Pedigree and Literature Review

Brain and Behavior
Behavioral Neuroscience
2019English

X-Linked Primary Immunodeficiency Associated With Hemizygous Mutations in the Moesin (MSN) Gene

Journal of Allergy and Clinical Immunology
AllergyImmunology
2016English

Chromosomal Copy Number Changes in Patients With Non-Syndromic X Linked Mental Retardation Detected by Array CGH

Journal of Medical Genetics
Genetics
2005English

A Newly Defined X Linked Mental Retardation Syndrome Associated With Alpha Thalassaemia.

Journal of Medical Genetics
Genetics
1991English

Oculogyric Dystonic States in Early-Onset Parkinsonism With Basal Ganglia Calcifications

Neurology
Neurology
2005English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy