Yıldırım, Yeşerin <br/><br/>
Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.  [electronic resource] 

 -  European journal of human genetics : EJHG  06 2018 
 - 876-885 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/s41431-018-0121-7  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Amino Acid Sequence<br/>Bone Morphogenetic Protein Receptors, Type I--genetics<br/>Brachydactyly--genetics<br/>Dwarfism--genetics<br/>Exome<br/>Female<br/>Foot Deformities, Congenital--genetics<br/>Genetic Testing<br/>Hand Deformities, Congenital--genetics<br/>Homozygote<br/>Humans<br/>Infertility, Male--epidemiology<br/>Male<br/>Osteochondrodysplasias--genetics<br/>Pedigree<br/>Phenotype<br/>Pyruvate Dehydrogenase (Lipoamide)--genetics<br/>Syndactyly--genetics<br/>Synostosis--genetics