AUTHOR=Akimova Daria , Markova Tatiana , Ampleeva Maria , Skoblov Mikhail TITLE=Variable clinical presentation of split hand/foot malformation syndrome in a family with microduplication of 10q24.32: a case report JOURNAL=Frontiers in Genetics VOLUME=14 YEAR=2024 URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1303807 DOI=10.3389/fgene.2023.1303807 ISSN=1664-8021 ABSTRACT=
SHFM (Split Hand/Foot Malformation) is a heterogeneous group of disorders characterized by the presence of clefts in the hands and feet, along with syndactyly of the digits. In this article, we describe a family in which two members exhibit characteristic developmental abnormalities associated with SHFM, presenting with variable clinical features. Using whole-genome sequencing, we identified a microduplication of a chromosomal segment on locus 10q24.32, specifically spanning positions 102934495 to 103496555, encompassing genes