Damla Yıldız

Expanding the Genotypic and Phenotypic Spectrum of Li-Campeau Syndrome: A Homozygous Single-Exon Deletion in UBR7.

Biallelic pathogenic variants in UBR7, encoding ubiquitin protein ligase E3 component n-recognin 7, cause Li-Campeau syndrome (LICAS; OMIM #619189), which is characterized by developmental delay/intellectual disability, epilepsy, hypothyroidism, ptosis, genital anomalies, and cardiac anomalies. LICAS is an ultrarare di...