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Split-Hand/Split-Foot Malformation Is Caused by Mutations in the p63 Gene on 3q27

Split-hand/split-foot malformation (SHFM), a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals, is phenotypically analogous to the naturally occ...

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Autors principals: Ianakiev, Peter, Kilpatrick, Michael W., Toudjarska, Iva, Basel, Donald, Beighton, Peter, Tsipouras, Petros
Format: Artigo
Idioma:Inglês
Publicat: The American Society of Human Genetics 2000
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1287102/
https://ncbi.nlm.nih.gov/pubmed/10839977
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