Analysis of germline CDKN1C (p57(KIP2)) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation

Beckwith-Wiedemann syndrome (BWS) is a human imprinting disorder with a variable phenotype. The major features are anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmenta...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Lam, W., Hatada, I., Ohishi, S., Mukai, T., Joyce, J., Cole, T., Donnai, D., Reik, W., Schofield, P., Maher, E.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Group 1999
Pynciau:
Original Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734395/
https://ncbi.nlm.nih.gov/pubmed/10424811
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