Associated Papers
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
Kruijt CC et al.
Investigative Ophthalmology & Visual Science, 2022
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
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
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
Wilkie AO et al.
Pediatrics, 2010
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