Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1993.tb03893.x/fullpdf
Reference2 articles.
1. Interstitial deletion del(17)(q21.3q23 or 24.2) syndrome;Dallapiccola;Clin Genet,1993
2. A unique de novo interstitial deletion del(17)(q21.3-q23.1) in a phenotypically abnormal infant;Park;Clin Genet,1992
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2. A 1.6-Mb Microdeletion in Chromosome 17q22 Leads to NOG-Related Symphalangism Spectrum Disorder without Intellectual Disability;PLOS ONE;2015-03-27
3. Myoclonic epilepsy in a child with 17q22-q23.1 deletion;American Journal of Medical Genetics Part A;2013-06-21
4. Molecular and clinical delineation of the 17q22 microdeletion phenotype;European Journal of Human Genetics;2013-01-30
5. Mutational analysis of NOG in esophageal atresia and tracheoesophageal fistula patients;Pediatric Surgery International;2011-11-15
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