Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity-Reference-Cited by-同舟云学术

Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity

Published:2015-04-22 Issue:1 Volume:24 Page:44-50
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Ghoumid Jamal^ORCID,Petit Florence,Holder-Espinasse Muriel,Jourdain Anne-Sophie,Guerra José,Dieux-Coeslier Anne,Figeac Martin,Porchet Nicole,Manouvrier-Hanu Sylvie,Escande Fabienne

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201577.pdf

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3. McIntosh I, Dreyer SD, Clough MV et al: Mutation analysis of LMX1B gene in nail-patella syndrome patients. Am J Hum Genet 1998; 63: 1651–1658.

4. Sweeney E, Fryer A, Mountford R, Green A, McIntosh I : Nail patella syndrome: a review of the phenotype aided by developmental biology. J Med Genet 2003; 40: 153–162.

5. Lichter PR, Richards JE, Downs CA, Stringham HM, Boehnke M, Farley FA : Cosegregation of open-angle glaucoma and the nail-patella syndrome. Am J Ophthalmol 1997; 124: 506–515.

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