TY  - GEN
AU  - Díaz-González,Francisca
AU  - Parrón-Pajares,Manuel
AU  - Barcia-Ramirez,Ana
AU  - Heath,Karen E
TI  - First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction
SN  - 1552-4833
PY  - 2021///0203
KW  - Basic Helix-Loop-Helix Transcription Factors
KW  - genetics
KW  - Female
KW  - Finger Phalanges
KW  - abnormalities
KW  - Hand Deformities, Congenital
KW  - etiology
KW  - Heterozygote
KW  - Humans
KW  - Infant, Newborn
KW  - Mutation, Missense
KW  - Prognosis
KW  - Syndactyly
KW  - Synostosis
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.61480
ER  -