Alström syndrome: insights into the pathogenesis of metabolic disorders
Author:
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Link
http://www.nature.com/articles/nrendo.2010.210.pdf
Reference128 articles.
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3. Muller, J. et al. Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. Hum. Genet. 127, 583–593 (2010).
4. Hampshire, D. J. et al. MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34. Eur. J. Hum. Genet. 14, 543–548 (2006).
5. Bielas, S. L. et al. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat. Genet. 41, 1032–1036 (2009).
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