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
The Drosophila SPECC1L homolog, Split Discs, co-localizes with non-muscle myosin II and regulates focal adhesion dynamics.
Teran A et al.
Biorxiv : the Preprint Server for Biology, 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
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
Select a paper to view details