Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature-Reference-Cited by-同舟云学术

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Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature

Published:2018-05-08 Issue:1 Volume:11 Page:
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Marsudi Bagas A.,Kartapradja Hannie,Paramayuda Chrysantine,Batubara Jose R. L.,Harahap Alida R.,Marzuki Nanis S.

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry (medical),Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Link

http://link.springer.com/content/pdf/10.1186/s13039-018-0379-z.pdf

Reference32 articles.

1. Wilhelm D, Palmer S, Koopman P. Sex determination and gonadal development in mammals. Physiol Rev. 2007;87:1–28.

2. Ahmed SF, Bashamboo A, Lucas-Herald A, McElreavy K. Understanding the genetic aetiology in patients with XY,DSD. Br Med Bull. 2013;106:67–89.

3. Achermann JC, Hughes IA. Disorders of sex development. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, editors. Williams textbook of endocrinology. 12th ed. Philadelphia: Elsevier Saunders; 2011. p. 868–70.

4. Murphy MW, Lee JK, Rojo S, Gearhart MD, Kurahashi K, Banerjee S, Bardwell VJ. An ancient protein-DNA interaction underlying metazoan sex determination. Nat Struct Mol Biol. 2015;22(6):442–51.

5. Jørgensen A, Nielsen J, Blomberg M, Græm N, Rajpert-De Metys E. Analysis of meiosis regulators in human gonads: a sexually dimorphic spatio-temporal expression pattern suggests involvement of DMRT1 in meiotic entry. Mol Hum Reprod. 2012;18:523–34.

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