Associated Papers
Brachydactyly with Novel BMP8A and FGFR1 Variants: A Case Report with Review of Literature.
Hunter L et al.
Advanced Genetics (hoboken, N.j.), 2025
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
BMPR-IB gene disruption causes severe limb deformities in pigs.
Yang Q et al.
Zoological Research, 2022
BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype.
Bednarek M et al.
Molecular Genetics & Genomic Medicine, 2021
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.
Racacho L et al.
European Journal of Human Genetics : Ejhg, 2015
Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly.
Badura-Stronka M et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2015
Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations.
Ricard N et al.
Blood, 2010
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.
Lehmann K et al.
European Journal of Human Genetics : Ejhg, 2006
Mutations of TGFbeta signaling molecules in human disease.
Harradine KA et al.
Annals of Medicine, 2006
A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies.
Demirhan O et al.
Journal of Medical Genetics, 2005
Physiological effects of major genes affecting ovulation rate in sheep.
McNatty KP et al.
Genetics, Selection, Evolution : Gse, 2005
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.
Lehmann K et al.
Proceedings of the National Academy of Sciences of the United States of America, 2003
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