Previously unrecognized form of familial spondyloepiphyseal dysplasia tarda with characteristic facies

Autor:	Sm, Huson, Suzanne Crowley, Cm, Hall, Supramaniam G, Rm, Winter
Rok vydání:	1993
Předmět:	Male Leg Genes Recessive Syndrome Osteochondrodysplasias Spine Radiography Consanguinity Face Intellectual Disability Microcephaly Humans Abnormalities Multiple Female Child
Zdroj:	Europe PubMed Central
ISSN:	0962-8827
Popis:	Three sibs, the offspring of first cousin Pakistani parents, are reported with an apparently 'new' form of spondyloepiphyseal dysplasia with microcephaly, unusual facies and moderate developmental delay.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ee482b48ee770174cbfb2a8271933c02 https://pubmed.ncbi.nlm.nih.gov/8298734 Zobrazit plný text záznamu