A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss
Author:
Publisher
S. Karger AG
Subject
Genetics (clinical),Genetics
Reference19 articles.
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2. Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, 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 71:618-624 (2002).
3. Dawson K, Seeman P, Sebald E, King L, Edwards M, et al: GDF5 is a second locus for multiple-synostosis syndrome. Am J Hum Genet 78:708-712 (2002).
4. Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, et al: Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat Genet 21:302-304 (1999).
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1. GDF6 Knockdown in a Family with Multiple Synostosis Syndrome and Speech Impairment;Genes;2021-08-29
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