Distal deletion of chromosome 13 in a child with the “Opitz” GBBB syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference29 articles.
1. Karyotype-Phenotype Correlation in Partial Trisomy 13
2. A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus
3. Preliminary definition of a “critical region” of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature
4. The opitz syndrome: A new designation for the clinically indistinguishable BBB and G syndromes
5. Ring chromosome 22 karyotype in a patient with Opitz (BBBG) syndrome
Cited by 8 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Partial trisomy 7q and monosomy 13q in a child with disorder of sex development: Phenotypic and genotypic findings;Gene;2013-03
2. Congenital chylothorax in Opitz G/BBB syndrome;American Journal of Medical Genetics Part A;2006
3. New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome;Human Molecular Genetics;2000-10-01
4. Detection of a cryptic translocation t(13;20)(q34;p13) in an unexplained case of MCA/MR: Value of FISH over high resolution banding;American Journal of Medical Genetics;1999-10-08
5. Further delineation of the Opitz G/BBB syndrome: Report of an infant with complex congenital heart disease and bladder exstrophy, and review of the literature;American Journal of Medical Genetics;1998-07-07
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