The transcription factor SOX3 is widely expressed in early vertebrate brain development. In
humans, duplication of SOX3 and polyalanine expansions at its C‐terminus may cause …

We detail here the clinical description and the family genetic study of a male patient with
global developmental delay, disruptive and obsessive behaviors and minor dysmorphic …

The SOX5 haploinsufficiency syndrome is characterized by global developmental delay,
intellectual disability, language and motor impairment, and distinct facial features. The …

Context: Heterozygous, de novo mutations in the transcription factor SOX2 are associated
with bilateral anophthalmia or severe microphthalmia and hypopituitarism. Variable …

SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and the
development of the nervous system. Despite its important developmental roles, SOX5 …

Duplications and deletions of Xq26-27 including SOX3 (Xq27. 1) have been associated with
X-linked mental retardation and isolated growth hormone deficiency (OMIM 300123) or X …

SOX-3 is a transcription factor expressed throughout the developing central nervous system
and is involved in maintenance of pluripotency in self-renewing stem cells, specification …

SOX2 is a transcription factor that is essential for maintenance of pluripotency and has
several conserved roles in early embryonic development. Heterozygous loss‐of‐function …

Duplications of Xq26-27 have been implicated in the etiology of X-linked hypopituitarism
associated with mental retardation (MR). Additionally, an expansion of a polyalanine tract …

SOX4 is a transcription factor with pleiotropic functions required for different developmental
processes, such as corticogenesis. As with all SOX proteins, it contains a conserved high …