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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Hum Genome Var
Hauptverfasser: Takagi, Masaki, Narumi, Satoshi, Hamada, Riku, Hasegawa, Yukihiro, Hasegawa, Tomonobu
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2014
Schlagworte:
Data Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785554/
https://ncbi.nlm.nih.gov/pubmed/27081504
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2014.11
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