Publication

Knight SW, Heiss NS, Vulliamy TJ, Greschner S, Stavrides G, Pai GS, Lestringant G, Varma N, Mason PJ, Dokal I, Poustka A, X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Am J Hum Genet65(1):50-8 1999
PubMed ID: 10364516

Records Return:  (4) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM03650Female47 YR515motherDYSKERATOSIS CONGENITA, X-LINKED; DKC
GM03195Male19 YR515brotherDYSKERATOSIS CONGENITA, X-LINKED; DKC
GM03194Male18 YR515brotherDYSKERATOSIS CONGENITA, X-LINKED; DKC
GM03193Male15 YR515probandDYSKERATOSIS CONGENITA, X-LINKED; DKC