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甲状腺肿_耳聋综合征
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相关基因
SLC26A4
位点：I5000002
位点：I5000003
位点：I5000693
位点：I5000696
位点：I5012616
位点：I5012618
位点：RS111033199
位点：RS111033244
位点：RS121908362
位点：RS28939086
位点：RS80338848
Murray RH, et al. Little evidence to suggest end to physician shortage. 1976
Van Hauwe P, et al. Two frequent missense mutations in Pendred syndrome. 1998
Coyle B, et al. Molecular analysis of the PDS gene in Pendred syndrome. 1998
Campbell C, et al. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. 2001
Gonzalez Trevino O, et al. Clinical and molecular analysis of three Mexican families with Pendred's syndrome. 2001
Pryor SP, et al. SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. 2005
Lesnik EA, et al. [Reaction capabilities and structure of poly(rG) and poly(rG)-poly(rC) in solution by the method of the kinetics of hydrogen ion exchange]. 1976
Coyle B, et al. Molecular analysis of the PDS gene in Pendred syndrome. 1998
Borck G, et al. Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation. 2003
Prasad S, et al. Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. 2004
Blons H, et al. Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. 2004
Pryor SP, et al. SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. 2005
Van Hauwe P, et al. Two frequent missense mutations in Pendred syndrome. 1998
Coyle B, et al. Molecular analysis of the PDS gene in Pendred syndrome. 1998
Campbell C, et al. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. 2001
Napiontek U, et al. Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene. 2004
Yoon JS, et al. Heterogeneity in the processing defect of SLC26A4 mutants. 2008
Van Hauwe P, et al. Two frequent missense mutations in Pendred syndrome. 1998
Coyle B, et al. Molecular analysis of the PDS gene in Pendred syndrome. 1998
Campbell C, et al. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. 2001
Yoon JS, et al. Heterogeneity in the processing defect of SLC26A4 mutants. 2008
Reardon W, et al. Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. 2000
Pryor SP, et al. SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. 2005
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