Llwytho...

Variable expression in Pfeiffer syndrome.

A female infant with Pfeiffer syndrome (acrocephalosyndactyly V) is presented. Her mother has no limb malformations, but has craniofacial features with strongly suggest that she is also affected, although more mildly. This family indicates that wide intrafamilial variation of Pfeiffer syndrome is po...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Sanchex, H M, De Negrotti, T C
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1981
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1048665/
https://ncbi.nlm.nih.gov/pubmed/7253005
Tagiau: Ychwanegu Tag
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