Abstract Mutations in HCFC1 (MIM300019), have been recently associated with cblX
(MIM309541), an X-linked, recessive disorder characterized by multiple congenital …

Mutations in the HCFC1 transcriptional co-factor protein are the cause of cblX syndrome and
X-linked intellectual disability (XLID). cblX is the more severe disorder associated with …

Background Precise regulation of neural precursor cell (NPC) proliferation and
differentiation is essential to ensure proper brain development and function. The HCFC1 …

Both gain-and loss-of-function mutations have recently implicated HCFC1 in
neurodevelopmental disorders. Here, we extend our previous HCFC1 over-expression …

Mutations in the HCFC1 gene are associated with cases of syndromic (cblX) and non-
syndromic intellectual disability. Syndromic individuals present with severe neurological …

Bcor (BCL6 corepressor) is a widely expressed gene that is mutated in patients with X-linked
Oculofaciocardiodental (OFCD) syndrome. BCOR regulates gene expression in association …

The CFDP1 proteins have been linked to craniofacial development and osteogenesis in
vertebrates, though specific human syndromes have not yet been identified. Alterations of …

There are 8 different human syndromes caused by mutations in the cholesterol synthesis
pathway. A subset of these disorders such as Smith-Lemli-Opitz disorder, are associated …

CblX (MIM309541) is an X-linked recessive disorder characterized by defects in cobalamin
(vitamin B12) metabolism and other developmental defects. Mutations in HCFC1, a …

Many processes take place during embryogenesis, and the development of the palate
mainly involves proliferation, migration, osteogenesis, and epithelial–mesenchymal …