Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion.

Molecular genetic investigation of a female infant with Beckwith-Wiedemann syndrome (BWS) showed loss of IGF2 imprinting but no evidence of uniparental disomy. In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of 18q-syndrome (microcephaly, short s...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Brewer, C M, Lam, W W, Hayward, C, Grace, E, Maher, E R, FitzPatrick, D R
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1998
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051225/
https://ncbi.nlm.nih.gov/pubmed/9507400
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