Article
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly.
American journal of medical genetics. Part A - 1 Aug 2024
Yamada Mamiko, Mizuno Seiji, Inaba Mie, Uehara Tomoko, Inagaki Hidehito, Suzuki Hisato, Miya Fuyuki, Takenouchi Toshiki, Kurahashi Hiroki, Kosaki Kenjiro
Abstract excerpt
Sonic hedgehog signaling molecule (SHH) is a key molecule in the cilia-mediated signaling pathway and a critical morphogen in embryogenesis. The association between loss-of-function variants of SHH and holoprosencephaly is well established. In mice experiments, reduced or increased signaling of SHH have been shown to be associated with narrowing or excessive expansion of the facial midline, respectively. Herein,...
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