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Co‐occurrence of orofacial clefts and clubfoot phenotypes in a sub‐Saharan African cohort: Whole‐exome sequencing implicates multiple syndromes and genes
Journal article   Open access   Peer reviewed

Co‐occurrence of orofacial clefts and clubfoot phenotypes in a sub‐Saharan African cohort: Whole‐exome sequencing implicates multiple syndromes and genes

Lord J. J. Gowans, Noura Al Dhaheri, Mary Li, Tamara Busch, Solomon Obiri‐Yeboah, Alexander A. Oti, Daniel K. Sabbah, Fareed K. N. Arthur, Waheed O. Awotoye, Azeez A. Alade, …
Molecular genetics & genomic medicine, Vol.9(4), pp.e1655-n/a
03/14/2021
DOI: 10.1002/mgg3.1655
PMCID: PMC8123728
PMID: 33719213
url
https://doi.org/10.1002/mgg3.1655View
Published (Version of record) Open Access

Abstract

Whole‐exome sequencing was applied to hunt for possible etiologic variants in six individuals that presented with orofacial clefts and clubfoot. Our genomics and bioinformatics analyses revealed many genetic syndromes in four out of the six probands, with multiple variants in genes associated with certain genetic syndromes being observed in some probands.
clubfoot genetic syndromes Original orofacial clefts whole‐exome sequencing

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