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Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease.
Am J Med Genet A. 2017 Oct;173(10):2826-2830. doi: 10.1002/ajmg.a.38411. Epub 2017 Aug 16.
Am J Med Genet A. 2017.
PMID: 28815995
Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism.
Ganaha A, Kaname T, Akazawa Y, Higa T, Shinjou A, Naritomi K, Suzuki M.
Ganaha A, et al. Among authors: shinjou a.
J Hum Genet. 2015 Jan;60(1):27-34. doi: 10.1038/jhg.2014.97. Epub 2014 Nov 13.
J Hum Genet. 2015.
PMID: 25391606
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