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Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation

Split-hand/split-foot malformation (SHFM), also known as ectrodactyly is a rare genetic disorder. It is a clinically and genetically heterogeneous group of limb malformations characterized by absence/hypoplasia and/or median cleft of hands and/or feet. To date, seven genes underlying SHFM have been...

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Detalles Bibliográficos
Autores principales: Ullah, Asmat, Gul, Ajab, Umair, Muhammad, Irfanullah, Ahmad, Farooq, Aziz, Abdul, Wali, Abdul, Ahmad, Wasim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5901503/
https://www.ncbi.nlm.nih.gov/pubmed/29384555
http://dx.doi.org/10.1590/1678-4685-GMB-2016-0162