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
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
Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome.
Wild KT et al.
American Journal of Medical Genetics. Part A, 2020
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