Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.

Chamara Sampath PaththinigeNirmala Dushyanthi SirisenaFabienne EscandeSylvie ManouvrierFlorence PetitVajira Harshadeva Weerabaddana Dissanayake

Published in: BMC medical genetics (2019)

We report the first Sri Lankan family with genetic diagnosis of BHLHA9 duplication causing SHFLD. This report along with the previously reported cases corroborate the possible etiopathogenic role of BHLHA9 gene dosage imbalances in SHFM and SHFLD across different populations.

Keyphrases

genome wide
copy number
genome wide identification
bone mineral density
dna methylation
postmenopausal women