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A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome

✍ Scribed by Adi Mory; Efrat Dagan; Barbara Illi; Philippe Duquesnoy; Shikma Mordechai; Ishai Shahor; Sveva Romani; Nivin Hawash-Moustafa; Hanna Mandel; Enza M. Valente; Serge Amselem; Ruth Gershoni-Baruch


Book ID
113423210
Publisher
American Society of Human Genetics
Year
2012
Tongue
English
Weight
661 KB
Volume
90
Category
Article
ISSN
0002-9297

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Stickler syndrome type I (STL1) is a phenotypically heterogeneous disorder characterized by ocular and extraocular features. It is caused by null-allele mutations in the COL2A1 gene that codes for procollagen II. COL2A1 precursor mRNA undergoes alternative splicing, resulting in two isoforms, a long