Associated Papers
Whole exome sequencing identified a novel frameshift variant in the BHLHA9 in an Iranian family with mesoaxial synostotic syndactyly.
Sedighzadeh SS et al.
Congenital Anomalies, 2021
First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction.
Díaz-González F et al.
American Journal of Medical Genetics. Part A, 2020
A novel frameshift variant in BHLHA9 underlies mesoaxial synostotic syndactyly associated with postaxial polydactyly.
Khan F et al.
European Journal of Medical Genetics, 2019
A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction.
Ullah A et al.
European Journal of Medical Genetics, 2019
A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family.
Khan A et al.
Human Genome Variation, 2017
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