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[HOXD13 polyalanine tract expansion in synpolydactyly: mutation detection and prenatal diagnosis in a large Chinese family].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Feb;22(1):5-9.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005.
PMID: 15696469
Chinese.
An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations.
Kan SH, Johnson D, Giele H, Wilkie AO.
Kan SH, et al.
Am J Med Genet A. 2003 Aug 15;121A(1):69-74. doi: 10.1002/ajmg.a.20103.
Am J Med Genet A. 2003.
PMID: 12900906
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Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13.
Debeer P, Bacchelli C, Scambler PJ, De Smet L, Fryns JP, Goodman FR.
Debeer P, et al.
J Med Genet. 2002 Nov;39(11):852-6. doi: 10.1136/jmg.39.11.852.
J Med Genet. 2002.
PMID: 12414828
Free PMC article.
No abstract available.
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