A family with hypoparathyroidism, deafness and renal anomaly syndrome - Clinical and molecular studies

Benzer Materyaller

• Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.
  Yazar:: Nesbit, M, ve diğerleri
  Baskı/Yayın Bilgisi: (2004)
• Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome.
  Yazar:: Zahirieh, A, ve diğerleri
  Baskı/Yayın Bilgisi: (2005)
• Molecular diagnosis of hypoparathyroidism: 2 illustrative cases
  Yazar:: Hampson, G, ve diğerleri
  Baskı/Yayın Bilgisi: (2003)
• Clinical case seminar: Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome
  Yazar:: Zahirieh, A, ve diğerleri
  Baskı/Yayın Bilgisi: (2005)
• A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome.
  Yazar:: Gaynor, K, ve diğerleri
  Baskı/Yayın Bilgisi: (2009)