Associated Papers
A Novel Heterozygous c.1024A>G Variant in BMPR1B Causes Either Isolated Brachydactyly Type A4 With Variable Expressivity or Incomplete Type A4 Overlapping Type D in a Chinese Han Pedigree.
Yang X et al.
American Journal of Medical Genetics. Part A, 2025
Gene variants, oxidative stress and inflammation in Colombian populations
Banguera DN et al.
Biomedica : Revista Del Instituto Nacional De Salud, 2025
A systematic review of genetic mutations in pulmonary arterial hypertension.
Garcia-Rivas G et al.
Bmc Medical Genetics, 2017
28768485 (PubMed )
Supplement: 12881_2017_440_MOESM1_ESM.xlsx › table-mutations-per-gene
Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease.
Schaefer B et al.
Human Molecular Genetics, 2015
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.
Stange K et al.
Orphanet Journal of Rare Diseases, 2015
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