Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility. [electronic resource]
Producer: 20190221Description: 876-885 p. digitalISSN:- 1476-5438
- Adult
- Amino Acid Sequence
- Bone Morphogenetic Protein Receptors, Type I -- genetics
- Brachydactyly -- genetics
- Dwarfism -- genetics
- Exome
- Female
- Foot Deformities, Congenital -- genetics
- Genetic Testing
- Hand Deformities, Congenital -- genetics
- Homozygote
- Humans
- Infertility, Male -- epidemiology
- Male
- Osteochondrodysplasias -- genetics
- Pedigree
- Phenotype
- Pyruvate Dehydrogenase (Lipoamide) -- genetics
- Syndactyly -- genetics
- Synostosis -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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