Genotype–phenotype correlation of a 5q22.3 deletion associated with craniofacial and limb defects
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference12 articles.
1. Distal 5q deletion with associated parietal foramina;Aftimos;Clin. Dysmorphol.,2010
2. Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly;Courtens;Am. J. Med. Genet.,1998
3. Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: molecular characterization of the deleted region to 5q22.3q23.3;Garcia-Miñaur;Am. J. Med. Genet. A,2005
4. Chromosome 5q-syndrome-ENT pathologies;Harréus;Laryngorhinootologie,2002
5. A case with the interstitial deletion of the long arm of No. 5 chromosome;Kadotani;Proc. Jpn. Acad.,1984
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