New ocular finding in Baraitser-Winter syndrome (BWS).
Sign Up to like & getrecommendations! Published in 2018 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.10.006
Abstract: Baraitser-Winter syndrome was first described as a syndrome of iris coloboma, ptosis, hypertelorism, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016). The phenotypic spectrum has since broadened to include other facial dysmorphic features, deafness,… read more here.
Keywords: winter syndrome; baraitser; baraitser winter; new ocular ... See more keywords
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.
Sign Up to like & getrecommendations! Published in 2018 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.11.022
Abstract: The SPECC1L protein plays a role in adherens junctions involved in cell adhesion, actin cytoskeleton organization, microtubule stabilization, spindle organization and cytokinesis. It modulates PI3K-AKT signaling and controls cranial neural crest cell delamination during facial… read more here.
Keywords: opitz gbbb; specc1l; baraitser winter; nosology ... See more keywords
The Clinical Manifestations and Genetic Implications of Baraitser-Winter Syndrome Type 2.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of pediatric genetics"
DOI: 10.1055/s-0036-1593967
Abstract: An 18-year-old Caucasian male was born by cesarean section weighing 2.6 kg (5 lb 14 oz) at birth after an uncomplicated pregnancy with no perinatal complications. Around 4 to 5 months of age, the patient's mother… read more here.
Keywords: winter syndrome; syndrome; syndrome type; baraitser winter ... See more keywords
Identification of a De Novo Heterozygous Missense ACTB Variant in Baraitser–Winter Cerebrofrontofacial Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.828120
Abstract: Baraitser–Winter cerebrofrontofacial syndrome (BWCFF, OMIM: 243310) is a rare autosomal-dominant developmental disorder associated with variants in the genes ACTB or ACTG1. It is characterized by brain malformations, a distinctive facial appearance, ocular coloboma, and intellectual… read more here.
Keywords: actb; winter cerebrofrontofacial; novo heterozygous; variant ... See more keywords