Associated Papers
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly.
Yamada M et al.
American Journal of Medical Genetics. Part A, 2024
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
Asadollahi R et al.
European Journal of Human Genetics : Ejhg, 2018
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