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 Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome.
Migliore C et al.
Genes, 2022
TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer.
da Silva EM et al.
Npj Breast Cancer, 2021
33863915 (PubMed )
Supplement: 41523_2021_250_MOESM1_ESM.pdf
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
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