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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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Autors principals: Sanchex, H M, De Negrotti, T C
Format: Artigo
Idioma:Inglês
Publicat: 1981
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1048665/
https://ncbi.nlm.nih.gov/pubmed/7253005
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