Ontology highlight
ABSTRACT:
SUBMITTER: Romanelli Tavares VL
PROVIDER: S-EPMC6422142 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
Romanelli Tavares Vanessa L VL Kague Erika E Musso Camila M CM Alegria Thiago G P TGP Freitas Renato S RS Bertola Debora R DR Twigg Stephen R F SRF Passos-Bueno Maria R MR
Molecular syndromology 20180703 1-2
Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by <i>EFNB1</i> mutations in which females are more severely affected than males. Severe male phenotypes are associated with mosaicism, supporting cellular interference for sex bias in this disease. Although many variants have been found in the coding region of <i>EFNB1</i>, only 2 pathogenic variants have been identified in the same nucleotide in 5'UTR, disrupting the stop codon of an upstream open reading frame (uORF). uORFs are ...[more]