Telemedicine Versus Traditional In-Person Consultations: Comparison of Patient Satisfaction Rates.

ppn pn

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

MED27 is a subunit of the Mediator multiprotein complex, which is involved in transcriptional regulation. Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder with spasticity, cataracts and cerebellar hypoplasia. We further delineate the clinical phenotype of MED27-related disease by characterizing the clinical and radiological features of 57 affected individuals from 30 unrelated families with biallelic MED27 variants.

A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts.

Oculofaciocardiodental (OFCD) syndrome is a rare X-linked dominant syndrome characterized by the involvement of the eyes, face, teeth, and heart with variable expressivity. The syndrome is caused by loss-of-function variants in the BCOR gene located on the X chromosome. OFCD affects only females with presumed embryonic lethality among males.

Epidemiology of cleft lip and palate among Jews and Bedouins in the Negev.

Background: Clefts of the lip and palate are the most common significant congenital birth anomaly of the orofacial region. The condition may vary from a minor easily correctable cleft to a significant functional and cosmetic incapacitation. This is the first epidemiological study of orofacial clefts in the Negev region in Israel.