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Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2

✍ Scribed by Jeffery, Steve; Afzal, Ali R.; Rajab, Anna; Fenske, Christiane D.; Oldridge, Michael; Elanko, Navaratnam; Ternes-Pereira, Eliana; Tüysüz, Beyhan; Murday, Victoria A.; Patton, Michael A.; Wilkie, Andrew O.M.


Book ID
109828671
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
458 KB
Volume
25
Category
Article
ISSN
1061-4036

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📜 SIMILAR VOLUMES


One gene, two phenotypes: ROR2 mutations
✍ Ali R. Afzal; Steve Jeffery 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 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