Autosomal recessive Robinow syndrome (RRS) is a severe skeletal dysplasia with short stature, generalized limb shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. The gene encoding receptor orphan receptor tyrosine kinase 2 (ROR2) is located on chromosome 9
โฆ LIBER โฆ
ATM Gene Mutations Result in Both Recessive and Dominant Expression Phenotypes of Genes and MicroRNAs
โ Scribed by Denis A. Smirnov; Vivian G. Cheung
- Book ID
- 113422559
- Publisher
- American Society of Human Genetics
- Year
- 2008
- Tongue
- English
- Weight
- 35 KB
- Volume
- 83
- Category
- Article
- ISSN
- 0002-9297
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