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

Internet

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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