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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Bibliografische gegevens
Gepubliceerd in:CEN Case Rep
Hoofdauteurs: Shirakawa, Toshihiko, Nakashima, Yumiko, Watanabe, Satoshi, Harada, Sadatomo, Kinoshita, Mariko, Kihara, Toshiharu, Hamasaki, Yuko, Shishido, Seiichiro, Yoshiura, Koh-ichiro, Moriuchi, Hiroyuki, Dateki, Sumito
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer Japan 2018
Onderwerpen:
Case Report
Online toegang: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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