A family with unusual Waardenburg syndrome type I (WSI), cleft lip (palate), and Hirschsprung disease is not linked to PAX 3

Author:

Pierpont John W.,Jacques Duane St.,Seaver Laurie H.,Erickson Robert P.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference25 articles.

1. Genetic heterogeneity in the Waardenburg syndrome;Arias;Birth Defects: Original Article Series,1971

2. An exonic mutation in the HUP2 paired domain gene causes Waardenburg syndrome;Baldwin;Nature,1992

3. Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism;Bard;Arch Ophthalmol,1978

4. A splice junction mutation in PAX 3 causes Waardenburg syndrome in a South African family;Butt;Hum Mol Genet,1994

5. Waardenburg syndrome with bilateral cleft lip;Giacoia;Am J Dis Child,1969

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