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Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: dominant inheritance and variable expression.

An infant is reported with a complete form of the ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome, inherited from his mother, who has a partial expression of the condition, without clefting. This observation stresses the phenotypic variability of the EEC syndrome, which in most cases is in...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Med Genet
Prif Awduron: Penchaszadeh, V B, de Negrotti, T C
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Publishing Group 1976
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013416/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/957377/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.13.4.281
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