Stapes ankylosis with broad thumb and toes
Definition:
References:
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[1]. David J Brown, et al. Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin. Am J Hum Genet. 2002 Sep;71(3):618-24. [Content Brief]
[2]. Y Hilhorst-Hofstee, et al. The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia. Clin Dysmorphol. 1997 Jul;6(3):195-203. [Content Brief]
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