Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: First description of patients without cystinuria
Author:
Affiliation:
1. Institute of Medical Genetics; University of Zurich; Schwerzenbach; Switzerland
2. Pediatric Neurology; Children's Hospital; Lucerne; Switzerland
3. Pediatric Endocrinology, Children's Hospital; Lucerne; Switzerland
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35994/fullpdf
Reference30 articles.
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2. PREPL, a prolyl endopeptidase-like enzyme by name only?-Lessons from patients;Boonen;CNS Neurol Disord Drug Targets,2011
3. Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine;Calonge;Nat Genet,1994
4. Cystinuria with mental retardation and paroxysmal dyskinesia in 2 brothers;Cavanagh;Arch Dis Child,1974
5. Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome;Chabrol;J Med Genet,2008
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