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 binds the myosin phosphatase complex MYPT1/PP1β and can regulate its distribution between microtubules and filamentous actin.
Mehta V et al.
The Journal of Biological Chemistry, 2023
SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome.
Migliore C et al.
Genes, 2022
A novel p.Pro871Leu missense mutation in SPECC1L gene causing craniosynostosis in a patient.
Bai S et al.
Orthodontics & Craniofacial Research, 2021
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
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
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Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.
Bhoj EJ et al.
American Journal of Medical Genetics. Part A, 2015
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.
Kruszka P et al.
Journal of Medical Genetics, 2015
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