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...

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Bibliografiske detaljer
Main Authors: Sanchex, H M, De Negrotti, T C
Format: Artigo
Sprog:Inglês
Udgivet: 1981
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1048665/
https://ncbi.nlm.nih.gov/pubmed/7253005
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