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Quoted phrase not found in phrase index: "Type A2 brachydactyly"
Page 1
BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype.
Mol Genet Genomic Med. 2021 Mar;9(3):e1594. doi: 10.1002/mgg3.1594. Epub 2021 Jan 24.
Mol Genet Genomic Med. 2021.
PMID: 33486847
Free PMC article.
BACKGROUND: Brachydactylies are a group of inherited conditions, characterized mainly by the presence of shortened fingers and toes. Based on the patients' phenotypes, brachydactylies have been subdivided into 10 subtypes. In this study, we have identified a family …
BACKGROUND: Brachydactylies are a group of inherited conditions, characterized mainly by the presence of shortened fingers and toes. …
Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2.
Sammar M, Stricker S, Schwabe GC, Sieber C, Hartung A, Hanke M, Oishi I, Pohl J, Minami Y, Sebald W, Mundlos S, Knaus P.
Sammar M, et al.
Genes Cells. 2004 Dec;9(12):1227-38. doi: 10.1111/j.1365-2443.2004.00799.x.
Genes Cells. 2004.
PMID: 15569154
Free article.
The brachydactylies are a group of inherited disorders of the hands characterized by shortened digits. Mutations in the tyrosine kinase receptor Ror2 cause brachydactyly type B (BDB). Mutations in GDF5, a member of the BMP/TGF-beta ligand family, cause bra …
The brachydactylies are a group of inherited disorders of the hands characterized by shortened digits. Mutations in the tyrosine kina …
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