Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.

Waardenburg syndrome (WS) is an autosomal dominant disorder characterised by pigmentary abnormalities and sensorineural deafness. It is subcategorised into type 1 (WS1) and type 2 (WS2) on the basis of the presence (WS1) or absence (WS2) of dystopia canthorum. WS1 is always caused by mutations in th...

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Autori principali: Van Camp, G, Van Thienen, M N, Handig, I, Van Roy, B, Rao, V S, Milunsky, A, Read, A P, Baldwin, C T, Farrer, L A, Bonduelle, M
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1995
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050545/
https://ncbi.nlm.nih.gov/pubmed/7562965
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