TY  - GEN
AU  - Yıldırım,Yeşerin
AU  - Ouriachi,Toufik
AU  - Woehlbier,Ute
AU  - Ouahioune,Wahiba
AU  - Balkan,Mahmut
AU  - Malik,Sajid
AU  - Tolun,Aslıhan
TI  - Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility
SN  - 1476-5438
PY  - 2019///0221
KW  - Adult
KW  - Amino Acid Sequence
KW  - Bone Morphogenetic Protein Receptors, Type I
KW  - genetics
KW  - Brachydactyly
KW  - Dwarfism
KW  - Exome
KW  - Female
KW  - Foot Deformities, Congenital
KW  - Genetic Testing
KW  - Hand Deformities, Congenital
KW  - Homozygote
KW  - Humans
KW  - Infertility, Male
KW  - epidemiology
KW  - Male
KW  - Osteochondrodysplasias
KW  - Pedigree
KW  - Phenotype
KW  - Pyruvate Dehydrogenase (Lipoamide)
KW  - Syndactyly
KW  - Synostosis
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/s41431-018-0121-7
ER  -