Duplication 5q and Deletion 9p due to a t(5;9)(q34;p23) in 2 Cousins with Features of Hunter-McAlpine Syndrome and Hypothyroidism
Author:
Publisher
S. Karger AG
Subject
Genetics(clinical),Genetics,Molecular Biology
Reference24 articles.
1. Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA
2. Syndromic craniosynostosis due to complex chromosome 5 rearrangement andMSX2 gene triplication
3. Chromosomal Abnormalities and Glaucoma: A Case of Congenital Glaucoma with Trisomy 8q22-Qter/ Monosomy 9p23-Pter
4. Missense Mutation in the Transcription Factor NKX2–5: A Novel Molecular Event in the Pathogenesis of Thyroid Dysgenesis
Cited by 3 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. From karyotypes to precision genomics in 9p deletion and duplication syndromes;Human Genetics and Genomics Advances;2022-01
2. A systematic review of the oral and craniofacial manifestations of cri du chat syndrome;Clinical Anatomy;2015-12-21
3. 9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism;American Journal of Medical Genetics Part A;2013-07-03
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