✦ LIBER ✦

A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis

✍ Scribed by Helszer, Zofia; Dmochowska, Anita; Szemraj, Janusz; Słowikowska-Hilczer, Jolanta; Wieczorek, Marek; Jędrzejczyk, Sławomir; Kałużewski, Bogdan

Book ID: 122538055
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 441 KB
Volume: 526
Category: Article
ISSN: 0378-1119
DOI: 10.1016/j.gene.2013.04.027

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel mutation in the SRY gene causing

A novel mutation in the SRY gene causing 46 XY complete gonadal dysgenesis in a Chinese patient

✍ Man, Elim; Tung, Yuet-Ling; Luk, Ho-Ming; Lo, Fai-Man; Lam, Tak-Sum; Cheung, Pik 📂 Article 📅 2013 🏛 BioMed Central 🌐 English ⚖ 323 KB

Novel mutation in the SRY gene results i

Novel mutation in the SRY gene results in 46,XY gonadal dysgenesis

✍ Fergus J. Cameron; Matthijs J. Smith; Garry L. Warne; Dr. Andrew H. Sinclair 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 177 KB

Ade novophe67leu mutation in the SRY gen

Ade novophe67leu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis

✍ Zenteno, J. C.; Carranza-Lira, S.; Jiménez, A. L.; Kofman, S. 📂 Article 📅 2003 🏛 Springer-Verlag 🌐 English ⚖ 120 KB

Identification of a novel mutation in th

Identification of a novel mutation in the SRY gene in a 46, XY female patient

✍ L. Baghernajad Salehi; O. Scarciolla; G. Frajese Vanni; A.M. Nardone; G. Frajese 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 490 KB

A novelWT1gene mutation in a patient wit

A novelWT1gene mutation in a patient with Wilms’ tumor and 46, XY gonadal dysgenesis

✍ Dong-Gi Lee; Deok Hyun Han; Kwan Hyun Park; Minki Baek 📂 Article 📅 2011 🏛 Springer 🌐 English ⚖ 242 KB

Primary amenorrhea in a 46,XY adolescent

Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation

✍ Françoise Paris; Pascal Philibert; Serge Lumbroso; Pierre Baldet; Jean Pierre Ch 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 160 KB