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

Podobne zapisy

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