Aplasia cutis congenita (ACC) is a congenital epidermal defect of the midline scalp and has
been proposed to be due to a primary keratinocyte abnormality. Why it forms mainly at this …

Aplasia cutis congenita (ACC) manifests at birth as a defect of the scalp skin. New findings
answer 2 longstanding questions: why ACC forms and why it affects mainly the midline scalp …

Introduction KCTD15 encodes an oligomeric BTB domain protein reported to inhibit neural
crest formation through repression of Wnt/beta-catenin signalling, as well as transactivation …

Scalp-ear-nipple (SEN) syndrome is a rare, autosomal-dominant disorder characterized by
cutis aplasia of the scalp; minor anomalies of the external ears, digits, and nails; and …

The scalp-ear-nipple (SEN) syndrome is an autosomal-dominant disorder characterized by
cutis aplasia of the scalp and malformations of breast, external ears, digits, and nails …

Potassium channel tetramerization domain containing 15 (Kctd15) was previously found to
have a role in early neural crest (NC) patterning, specifically delimiting the region where NC …

The KCTD family includes tetramerization (T1) domain containing proteins with diverse
biological effects. We identified a novel member of the KCTD family, BTBD10. A …

Objective Several small case series identified KCTD7 mutations in patients with a rare
autosomal recessive disorder designated progressive myoclonic epilepsy (EPM3) and …

The underlying molecular basis for neurodevelopmental or neuropsychiatric disorders is not
known. In contrast, mechanistic understanding of other brain disorders including …

Copy-number variants of chromosome 16 region 16p11. 2 are linked to neuropsychiatric
disorders,,,,, and are among the most prevalent in autism spectrum disorders,,. Of many …