Donor splice-site mutations in WT1 are responsible for Frasier syndrome-Reference-Cited by-同舟云学术

Donor splice-site mutations in WT1 are responsible for Frasier syndrome

Published:1997-12 Issue:4 Volume:17 Page:467-470
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Barbaux Sandrine,Niaudet Patrick,Gubler Marie-Claire,Grünfeld Jean-Pierre,Jaubert Francis,Kuttenn Frédérique,Fékété Claire Nihoul,Souleyreau-Therville Nicole,Thibaud Elisabeth,Fellous Marc,McElreavey Ken

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1297-467.pdf

Reference32 articles.

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2. Haning, R.V., Chesney, R.W., Moorthy, A.V. & Gilbert, E.F. A syndrome of chronic renal failure and XY gonadal dysgenesis in young phenotypic females without genital ambiguity. Am. J. Kidney Dis. 6, 40–48 (1985).

3. Kinberg, J.A., Angle, C.R. & Wilson, R.B. Nephropathy-gonadal dysgenesis, type 2: renal failure in three siblings with dysgenesis in one. Am. J. Kidney Dis. 9, 507–510 (1987).

4. Moorthy, A.V., Chesney, R.W. & Lubinsky, M. Chronic renal failure and XY gonadal dysgenesis: “Frasier” syndrome— commentary on reported cases. Am. J. Med. Genet. 3, 297–302 (1987).

5. Blanchet, P., Daloze, P., Lesage, R., Papas, S. & van Campenhout, J. XY gonadal dysgenesis with gonadoblastoma discovered after kidney transplantation. Am. J. Obstet Gynecol. 129, 221–222 (1977).

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