X-linked mental retardation and neurological symptoms: a nosological approach

Autor:	C T, Schrander-Stumpel, C J, Höweler, J P, Fryns
Rok vydání:	1995
Předmět:	Chromosome Aberrations Male Brain Diseases X Chromosome Genetic Linkage Brain Cerebellum Intellectual Disability Mutation Microcephaly Humans Abnormalities Multiple Female Agenesis of Corpus Callosum Nervous System Diseases Monoamine Oxidase
Zdroj:	Genetic counseling (Geneva, Switzerland). 6(1)
ISSN:	1015-8146
Popis:	Various clinical classifications of XLMR have been reported. In a recent review on X-linked mental retardation (XLMR) genes, 127 conditions featuring XLMR as a primary or major manifestation were listed (32). In our clinical departments, we have a special interest in families of male patients with mental retardation and neurological symptoms. Since the combination of XLMR and neurological manifestations could be found in almost all categories of the previously reported classifications, we outlined a nosological approach meant for those cases where other specific symptoms are lacking.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::5066674d5b65d2dc57bddceab422ef24 https://pubmed.ncbi.nlm.nih.gov/7794558 Zobrazit plný text záznamu