Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Teunissen-Cremers syndrome is an autosomal dominant disorder caused by mutations of the NOG gene. Its features include broad thumbs, broad first toes, syndactyly, hyperopia, and congenital conductive hearing loss because of stapes ankylosis.
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Milunsky J et al. (1999) Congenital stapes ankylosis, broad thumbs, and hyperopia: report of a family and refinement of a syndrome.
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Brown DJ et al. (2002) 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.
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Hirshoren N et al. () P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes.
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Teunissen B et al. (1990) An autosomal dominant inherited syndrome with congenital stapes ankylosis.
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Hilhorst-Hofstee Y et al. (1997) The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia.
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Orphanet article Orphanet ID 140917
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OMIM.ORG article Omim 184460
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Wikipedia article Wikipedia EN (Teunissen–Cremers_syndrome)
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