Associated Papers
Disruption of SPECC1L translation initiation by intragenic deletion: novel pathogenic mechanism in Teebi-hypertelorism syndrome.
Babai A et al.
Npj Genomic Medicine, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
SPECC1L: a cytoskeletal protein that regulates embryonic tissue dynamics.
Saadi I et al.
Biochemical Society Transactions, 2023
SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome.
Migliore C et al.
Genes, 2022
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.
Bhoj EJ et al.
European Journal of Medical Genetics, 2019
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