Associated Papers
Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.
Zhu S et al.
Human Mutation, 2025
40918684 (PubMed )
Supplement: 6824122.f3.xlsx › Table_S3
Investigating gene functions and single-cell expression profiles of de novo variants in orofacial clefts.
Itai T et al.
Hgg Advances, 2024
38807368 (PubMed )
Supplement: mmc2.xlsx › Table_S3
Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate.
Awotoye W et al.
Scientific Reports, 2022
New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.
de Castro VF et al.
Molecular Syndromology, 2021
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.
Bruel AL et al.
Clinical Genetics, 2018
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
Roessler E et al.
Human Mutation, 2009
Discordant semilobar holoprosencephaly in monozygotic twins with de novo inv dup(15) marker chromosome and de novo mutation on SHH gene.
Peng HH et al.
Fetal Diagnosis and Therapy, 2007
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