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Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome.

  • Minton, JA, Owen, KR, Ricketts, CJ, et al.
  • 2006-08-05
2
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Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.

  • Coyle, B, Coffey, R, Armour, JA, et al.
  • 1996-04-05
3
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HDR syndrome: a follow-up genotype-phenotype analysis of a de novo missense Thr272Ile mutation in exon 4 of GATA3.

  • Gomes, TS, Gortner, L, Dockter, G, et al.
  • 2012-11-05
4
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Characteristics of hearing loss in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome.

  • van Looij, MA, Meijers-Heijboer, H, Beetz, R, et al.
  • 2006
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