Newly Identified t(2;17)(p15;q24.2) Chromosomal Translocation Is Associated with Dysgenetic Gonads and Multiple Somatic Anomalies
-
Published:2018
Issue:3
Volume:245
Page:187-191
-
ISSN:0040-8727
-
Container-title:The Tohoku Journal of Experimental Medicine
-
language:en
-
Short-container-title:Tohoku J. Exp. Med.
Author:
Morozumi Kento1, Ainoya Keiko2, Takemoto Jun2, Sakai Kiyohide2
Affiliation:
1. Department of Urology, Yamagata Prefectural Central Hospital 2. Department of Urology, Miyagi Children’s Hospital
Publisher
Tohoku University Medical Press
Subject
General Biochemistry, Genetics and Molecular Biology,General Medicine
Reference11 articles.
1. Castori, M., Bottillo, I., Morlino, S., Barone, C., Cascone, P., Pediatric Craniofacial Malformation (PECRAM) Study Group,Grammatico, P. & Laino, L. (2016) Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ~ 1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16. Birth Defects Res. A Clin. Mol. Teratol., 106, 61-68. 2. Gordon, C.T., Attanasio, C., Bhatia, S., Benko, S., Ansari, M., Tan, T.Y., Munnich, A., Pennacchio, L.A., Abadie, V., Temple, I.K., Goldenberg, A., van Heyningen, V., Amiel, J., FitzPatrick, D., Kleinjan, D.A., et al. (2014) Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence. Hum. Mutat., 35, 1011-1020. 3. Iliev, D.I., Ranke, M.B. & Wollmann, H.A. (2002) Mixed gonadal dysgenesis and precocious puberty. Horm. Res., 58, 30-33. 4. Karaer, K., Yuksel, Z., Yalinbas, E. & Scherer, G. (2014) A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene. Turk. Pediatri Ars., 49, 154-156. 5. Katoh-Fukui, Y., Igarashi, M., Nagasaki, K., Horikawa, R., Nagai, T., Tsuchiya, T., Suzuki, E., Miyado, M., Hata, K., Nakabayashi, K., Hayashi, K., Matsubara, Y., Baba, T., Morohashi, K., Igarashi, A., et al. (2015) Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9. Mol. Genet. Genomic Med., 3, 550-557.
Cited by
2 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
|
|