## Abstract We report the clinical and molecular analysis in a consanguineous family in which the skeletal dysplasias LΓ©riβWeill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD) both segregate. A newborn male and his mother, both with Langer mesomelic dysplasia, are described. A homozyg
Pseudodominant inheritance of nephronophthisis caused by a homozygousNPHP1deletion
β Scribed by Julia Hoefele; Ahmet Nayir; Moumita Chaki; Anita Imm; Susan J. Allen; Edgar A. Otto; Friedhelm Hildebrandt
- Publisher
- Springer
- Year
- 2011
- Tongue
- English
- Weight
- 218 KB
- Volume
- 26
- Category
- Article
- ISSN
- 0931-041X
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