Translocation (Y;22) resulting in the loss of SHOX and isolated short stature
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference26 articles.
1. A sterile male with 45,X0 and a Y;22 translocation;Arnemann;Hum Genet,1991
2. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome);Belin;Nat Genet,1998
3. Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone;Binder;J Clin Endocrinol Metab,2000
4. SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain heart and limb development;Blashke;PNAS,1998
5. X/Y translocation in a family with Leri-Weill dyschondrosteosis;Calabrese;Hum Genet,1999
Cited by 5 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. An infertile azoospermic male with 45,X karyotype and a unique complex (Y;14); (Y;22) translocation: cytogenetic and molecular characterization;Journal of Assisted Reproduction and Genetics;2018-06-02
2. 45,X Karyotype in an Infertile Man: How Is This Possible?;Urologia Internationalis;2014-08-20
3. MECP2 duplications in six patients with complex sex chromosome rearrangements;European Journal of Human Genetics;2010-12-01
4. D;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007
5. Identification and characterization of different SHOX gene deletions in patients with Leri–Weill dyschondrosteosys by MLPA assay;Journal of Human Genetics;2006-11-08
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