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Year | Number of Results |
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2005 | 1 |
2013 | 1 |
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PubMed (cited) for id: 609441
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A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.
Orphanet J Rare Dis. 2015 Jun 24;10:84. doi: 10.1186/s13023-015-0299-5.
Orphanet J Rare Dis. 2015.
PMID: 26105076
Free PMC article.
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.
Graul-Neumann LM, Deichsel A, Wille U, Kakar N, Koll R, Bassir C, Ahmad J, Cormier-Daire V, Mundlos S, Kubisch C, Borck G, Klopocki E, Mueller TD, Doelken SC, Seemann P.
Graul-Neumann LM, et al.
Eur J Hum Genet. 2014 Jun;22(6):726-33. doi: 10.1038/ejhg.2013.222. Epub 2013 Oct 16.
Eur J Hum Genet. 2014.
PMID: 24129431
Free PMC article.
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A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies.
Demirhan O, Türkmen S, Schwabe GC, Soyupak S, Akgül E, Tastemir D, Karahan D, Mundlos S, Lehmann K.
Demirhan O, et al.
J Med Genet. 2005 Apr;42(4):314-7. doi: 10.1136/jmg.2004.023564.
J Med Genet. 2005.
PMID: 15805157
Free PMC article.
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