First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction.

Díaz-González, Francisca

First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction. [electronic resource] - American journal of medical genetics. Part A 04 2020 - 628-631 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1552-4833

10.1002/ajmg.a.61480 doi


Basic Helix-Loop-Helix Transcription Factors--genetics
Female
Finger Phalanges--abnormalities
Hand Deformities, Congenital--etiology
Heterozygote
Humans
Infant, Newborn
Mutation, Missense
Prognosis
Syndactyly--etiology
Synostosis--etiology