A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure

Glioblastoma 2 (GLI2) is a mediator of Sonic hedgehog signaling pathway that plays an important role in development of the central nervous system and limbs. Heterozygous GLI2 mutations have been associated with postaxial polydactyly, various pituitary dysfunction, and holoprosencephaly-like phenotyp...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :CEN Case Rep
Главные авторы: Shirakawa, Toshihiko, Nakashima, Yumiko, Watanabe, Satoshi, Harada, Sadatomo, Kinoshita, Mariko, Kihara, Toshiharu, Hamasaki, Yuko, Shishido, Seiichiro, Yoshiura, Koh-ichiro, Moriuchi, Hiroyuki, Dateki, Sumito
Формат: Artigo
Язык:Inglês
Опубликовано: Springer Japan 2018
Предметы:
Case Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886933/
https://ncbi.nlm.nih.gov/pubmed/29318530
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-018-0302-9
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы