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
A familial Sonic Hedgehog (SHH) stop-gain mutation associated with agenesis of the corpus callosum, mild intellectual disability and facial dysmorphism.
Yi X et al.
Brain & Development, 2020
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