Associated Papers
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Scocchia A et al.
Orphanet Journal of Rare Diseases, 2021
34627339 (PubMed )
Supplement: 13023_2021_2025_MOESM3_ESM.xlsx › Targeted_non-coding_variants
Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5'UTR of EFNB1.
Romanelli Tavares VL et al.
Molecular Syndromology, 2019
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
van den Elzen ME et al.
European Journal of Human Genetics : Ejhg, 2014
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
Twigg SR et al.
Human Molecular Genetics, 2013
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