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7q21.3 Deletion involving enhancer sequences within the gene DYNC1I1 presents with intellectual disability and split hand-split foot malformation with decreased penetrance

Split hand-split food malformation (SHFM) is a congenital defect of limb development that involves the central rays of the autopod and presents with median clefts of the hands and feet. It often includes syndactyly and aplasia/hypoplasia of the phalanges. SHFM is a genetic condition with high geneti...

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Библиографические подробности
Опубликовано в: :Mol Cytogenet
Главные авторы: Delgado, Sara, Velinov, Milen
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2015
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4465478/
https://ncbi.nlm.nih.gov/pubmed/26075025
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0139-2
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