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
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.
Brea-Fernández AJ et al.
European Journal of Human Genetics : Ejhg, 2022
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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