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...

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Detalhes bibliográficos
Publicado no:CEN Case Rep
Main Authors: Shirakawa, Toshihiko, Nakashima, Yumiko, Watanabe, Satoshi, Harada, Sadatomo, Kinoshita, Mariko, Kihara, Toshiharu, Hamasaki, Yuko, Shishido, Seiichiro, Yoshiura, Koh-ichiro, Moriuchi, Hiroyuki, Dateki, Sumito
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Japan 2018
Assuntos:
Case Report
Acesso em linha: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
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