A family with hypoparathyroidism, deafness and renal anomaly syndrome - Clinical and molecular studies
Asıl Yazarlar: | Dobbie, A, Haan, E, Nesbit, M, Bowl, M, Thakker, R |
---|---|
Materyal Türü: | Journal article |
Baskı/Yayın Bilgisi: |
2001
|
Benzer Materyaller
-
Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.
Yazar:: Nesbit, M, ve diğerleri
Baskı/Yayın Bilgisi: (2004) -
Molecular diagnosis of hypoparathyroidism: 2 illustrative cases
Yazar:: Hampson, G, ve diğerleri
Baskı/Yayın Bilgisi: (2003) -
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) -
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)