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A new mutation in the gene ROR2 causes brachydactyly type B1

โœ Scribed by Huang, Dan; Jiang, Shujuan; Zhang, Yuanyuan; Liu, Xiaoliang; Zhang, Jiubin; He, Rong


Book ID
125800480
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
714 KB
Volume
547
Category
Article
ISSN
0378-1119

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One gene, two phenotypes: ROR2 mutations
โœ Ali R. Afzal; Steve Jeffery ๐Ÿ“‚ Article ๐Ÿ“… 2003 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 212 KB

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