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Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3

BACKGROUND: 3MC syndrome type 3 is an autosomal recessive disorder caused by mutations in the COLEC10 gene besides other genes like COLEC11 and MASP1. This disorder is characterized by facial dysmorphism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss, craniosy...

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Detalles Bibliográficos
Autores principales:	Mohammadi, Pouria, Salehi Siavashani, Elham, Mohammadi, Mohammad Farid, Bahramy, Afshin, Almadani, Navid, Garshasbi, Masoud
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606204/ https://www.ncbi.nlm.nih.gov/pubmed/34636477 http://dx.doi.org/10.1002/mgg3.1834

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