Ontology highlight
ABSTRACT:
SUBMITTER: Khan A
PROVIDER: S-EPMC5729216 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
Human genome variation 20171214
Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) is a rare non-syndromic limb malformation with autosomal recessive inheritance. To date, only a few affected families with MSSD who had <i>BHLHA9</i> mutations have been reported. The present report describes a consanguineous Pakistani family with five affected individuals with MSSD who exhibited an autosomal recessive pattern. Genotyping followed by Sanger sequencing was performed, and we identified a novel homozygous missense mut ...[more]