The corpus callosum is the largest white matter structure connecting the two cerebral
hemispheres. Agenesis of the corpus callosum (ACC), complete or partial, is one of the most …

Higher cognition in humans, compared to other primates, is often attributed to an increased
brain size, especially forebrain cortical surface area. Brain size is determined through highly …

Protein O-GlcNAcylation is a dynamic posttranslational modification that is catalyzed by the
enzyme O-GlcNAc transferase (OGT) and is essential for neurodevelopment and postnatal …

SOX2 variants and deletions are a common cause of anophthalmia and microphthalmia
(A/M). This article presents data from a cohort of patients with SOX2 variants, some of whom …

The phenotypic spectrum of SOX2 disorder includes anophthalmia and/or microphthalmia,
brain malformations, developmental delay/intellectual disability, esophageal atresia …

Congenital pituitary hormone deficiency is a disabling condition. It is part of a spectrum of
disorders including craniofacial midline developmental defects ranging from …

SOX2 pathogenic variants, though rare, constitute the most commonly known genetic cause
of clinical anophthalmia and microphthalmia. However, patients without major ocular …

2. Discussion To the best of our knowledge, we here report only the second carrier of the
most common SOX2 mutation c. 70_89del with an ataxic gait and merely the fourth patient …

Wrodzona niedrożność (atrezja) przełyku jest jedną z najcięższych wad rozwojowych
występującą z częstością około 1 na 3 000 żywych urodzeń [1][2][3][4][5][6][7][8][9] …

The phenotypic spectrum of SOX2 disorder includes anophthalmia and/or microphthalmia,
brain malformations, developmental delay/intellectual disability, esophageal atresia …