Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2-Reference-Cited by-同舟云学术

Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2

Published:2014-06-26 Issue:10 Volume:164 Page:2618-2622
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Piard Juliette¹,Mignot Brigitte²,Arbez-Gindre Francine³,Aubert Didier⁴,Morel Yves⁵,Roze Virginie⁶,McElreavey Kenneth⁷,Jonveaux Philippe⁸,Valduga Mylène⁸,Van Maldergem Lionel¹

Affiliation:

1. Centre de Génétique Humaine; Université de Franche-Comté; Besançon France

2. Service de Pédiatrie; Université de Franche-Comté; Besançon France

3. Service d'Anatomie Pathologique; Université de Franche-Comté; Besançon France

4. Service de Chirurgie Pédiatrique; Université de Franche-Comté; Besançon France

5. Service d'Endocrinologie Moléculaire et Maladies Rares; Université de Lyon; Lyon France

6. Laboratoire de Génétique; Histologie et Biologie de la Reproduction; Université de Franche-Comté; Besançon France

7. Service de Biologie Développementale; Institut Pasteur; Paris France

8. Laboratoire de Génétique; Université de Nancy; Nancy France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36662/fullpdf

Reference18 articles.

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2. Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly;Brunelli;Nat Genet,1996

3. Prenatal diagnosis of monosomy 10q25 associated with single umbilical artery and sex reversal: Report of a case;Chung;Prenat Diagn,1998

4. Mammalian sex determination-Insights from humans and mice;Eggers;Chromosome Res,2012

5. Biological assessment of abnormal genitalia;Hughes;J Pediatr Urol,2012

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