A novel KAL1 mutation is associated with combined pituitary hormone deficiency

Using a next-generation sequencing strategy, we identified a novel KAL1 missense mutation (p.His568Gln) in a patient with combined pituitary hormone deficiency, right microphthalmia, right renal aplasia and severe developmental delay. Our findings will provide additional evidence that KAL1 mutations...

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Detalles Bibliográficos
Autores principales: Takagi, Masaki, Narumi, Satoshi, Hamada, Riku, Hasegawa, Yukihiro, Hasegawa, Tomonobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785554/
https://www.ncbi.nlm.nih.gov/pubmed/27081504
http://dx.doi.org/10.1038/hgv.2014.11

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785554/
https://www.ncbi.nlm.nih.gov/pubmed/27081504
http://dx.doi.org/10.1038/hgv.2014.11

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