A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference7 articles.
1. A new case of interstitial 12q deletion;Gallego;Int. Pediatr.,2000
2. AMIGO, a transmembrane protein implicated in axon tract development, defines a novel protein family with leucine-rich repeats;Kuja-Panula;J. Cell Biol.,2003
3. The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1;Liberfarb;Genet. Med.,2003
4. Phenotype–genotype correlation in two patients with 12q proximal deletion;Miyake;J. Hum. Genet.,2004
5. Clinical and Molecular genetics of Stickler syndrome;Snead;J. Med. Genet.,1999
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