Extended clinical features associated with novel Glis3 mutation: a case report

BACKGROUND: Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with 12 reported patients to date. Additional features, previously described, include congenital glaucoma, hepatic fibrosis, polycystic...

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Detalles Bibliográficos
Autores principales: Alghamdi, K. A., Alsaedi, A. B., Aljasser, A., Altawil, A., Kamal, Naglaa M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5335837/
https://www.ncbi.nlm.nih.gov/pubmed/28253873
http://dx.doi.org/10.1186/s12902-017-0160-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5335837/
https://www.ncbi.nlm.nih.gov/pubmed/28253873
http://dx.doi.org/10.1186/s12902-017-0160-z

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