Díaz-González, Francisca <br/><br/>
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 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.61480  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Basic Helix-Loop-Helix Transcription Factors--genetics<br/>Female<br/>Finger Phalanges--abnormalities<br/>Hand Deformities, Congenital--etiology<br/>Heterozygote<br/>Humans<br/>Infant, Newborn<br/>Mutation, Missense<br/>Prognosis<br/>Syndactyly--etiology<br/>Synostosis--etiology