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2015 | 1 |
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Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
Am J Hum Genet. 2015 May 7;96(5):816-25. doi: 10.1016/j.ajhg.2015.03.001. Epub 2015 Apr 9.
Am J Hum Genet. 2015.
PMID: 25865493
Free PMC article.
Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation.
Aymé S, Philip N.
Aymé S, et al.
Clin Dysmorphol. 1996 Jan;5(1):55-60. doi: 10.1097/00019605-199601000-00008.
Clin Dysmorphol. 1996.
PMID: 8867660
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