IndraLab

Statements

KCNQ1 activates GH1. 3 / 3
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"The current work was sparked by our recent finding which showed that two specific mutations in KCNQ1, p. (Arg116Leu) and p. (Pro369Leu), underlie growth hormone deficiency and maternally inherited gingival fibromatosis."
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"Recently, we showed that two missense mutations in KCNQ1 (potassium voltage gated channel subfamily Q member 1), underlie maternally inherited gingival fibromatosis and autosomal dominant growth hormone deficiency which, in some patients, expanded to multiple pituitary hormone deficiency."
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"Recently, mutations in KCNQ1, a potassium channel gene usually linked to long QT syndrome, were reported to cause maternally inherited gingival fibromatosis and growth hormone deficiency (GHD)."
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