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
Comorbidity of congenital heart defects and holoprosencephaly is likely genetically driven and gene-specific.
Tekendo-Ngongang C et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
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