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Identification of a Novel 14q13.3 Deletion Involving the SLC25A21 Gene Associated with Familial Synpolydactyly

Synpolydactyly is a relatively rare malformation. Recently, we came across a male infant with a familial synpolydactyly of the hands and feet. As most familial synpolydactyly syndromes have not been linked to any specific mutations, we felt further investigation was warranted. Using microarray and f...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Meyertholen, K., Ravnan, J.B., Matalon, R.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4329497/
https://ncbi.nlm.nih.gov/pubmed/25759628
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000339177
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