Delineation of two distinct 6p deletion syndromes.

Deletions of the short arm of chromosome 6 are relatively rare, the main features being developmental delay, craniofacial malformations, hypotonia, and defects of the heart and kidney, with hydrocephalus and eye abnormalities occurring in some instances. We present the molecular cytogenetic investig...

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Hlavní autoři: Davies, A, Mirza, G, Sekhon, G, Turnpenny, P, Leroy, F, Speleman, F, Law, C, van Regemorter, N, Vamos, E, Flinter, F, Ragoussis, J
Médium: Journal article
Jazyk:English
Vydáno: 1999