Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations (typically occipital meningoencephalocele), postaxial polydactyly, multicystic kidney dysplasia, and ductal proliferation in the portal area of the liver. MKS is genetically het
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identifiedPAX3mutations
โ Scribed by Anita L. DeStefano; L. Adrienne Cupples; Kathleen S. Arnos; J. H. Jr. Asher; Clinton T. Baldwin; Susan Blanton; Melisa L. Carey; Elias O. da Silva; T. B. Friedman; Jacquie Greenberg; Anil K. Lalwani; Aubrey Milunsky; Walter E. Nance; Arti Pandya; Rajkumar S. Ramesar; Andrew P. Read; May Tassabejhi; Edward R. Wilcox; L. A. Farrer
- Publisher
- Springer
- Year
- 1998
- Tongue
- English
- Weight
- 98 KB
- Volume
- 102
- Category
- Article
- ISSN
- 0340-6717
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