Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference31 articles.
1. Familial mental retardation in a family with an inherited chromosome rearrangement
2. Recognizable behavioral and somatic phenotype in patients with proximal interstitial 18q deletion: Report on a new affected child and follow-up on the original reported familial cases
3. Recurrent interstitial deletions of proximal 18q: A new syndrome involving expressive speech delay
4. Characterization of a de novo unbalanced translocation t(14q18q) using microdissection and fluorescence in situ hybridization
5. Cytogenetic genotype-phenotype studies: Improving genotyping, phenotyping and data storage
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