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Dystrophin and mutations: one gene, several proteins, multiple phenotypes

โœ Scribed by Francesco Muntoni; Silvia Torelli; Alessandra Ferlini


Book ID
114407553
Publisher
The Lancet
Year
2003
Tongue
English
Weight
565 KB
Volume
2
Category
Article
ISSN
1474-4465

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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