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Rare missense variant p.Ala505Ser in the ZAK protein observed in a patient with split-hand/foot malformation from a non-consanguineous pedigree

OBJECTIVE: Split-hand/foot malformation (SHFM) is a rare, often debilitating, congenital limb malformation. A single nucleotide polymorphism within the leucine zipper containing kinase AZK (ZAK) gene was recently associated with SHFM in two consanguineous Pakistani pedigrees. We hypothesized that ad...

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Detalles Bibliográficos
Autores principales:	Funk, Christopher Ronald, Huey, Elizabeth S., May, Melanie M., Peng, Yunhui, Michonova, Ekaterina, Best, Robert G., Schwartz, Charles E., Blenda, Anna V.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2020
Materias:	Pre-Clinical Research Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7144677/ https://www.ncbi.nlm.nih.gov/pubmed/32266845 http://dx.doi.org/10.1177/0300060519879293

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