De novo germline variants of the SRY‐related HMG‐box 11 gene (SOX11) have been
reported to cause Coffin–Siris syndrome‐9 (CSS‐9), a rare congenital disorder associated …

Abstract Coffin‐Siris syndrome (CSS, OMIM# 135900) is a rare congenital disorder
associated with neurodevelopmental and dysmorphic features. The primary cause of CSS is …

SOX11 is a transcription factor belonging to the sex determining region Y-related high-
mobility group box family that plays a vital role in early embryogenesis and neurogenesis …

The phenotypic spectrum of SOX11‐related Coffin‐Siris syndrome (CSS) is expanding with
reports of new associations. SOX11 is implicated in neurogenesis and inner ear …

Background SOX11 is a transcription factor proposed to play a role in brain development.
The relevance of SOX11 to human developmental disorders was suggested by a recent …

Objective: Point mutations and deletions within the SOX11 gene have recently been
described in individuals with a rare variant of Coffin-Siris syndrome, OMIM 615866, an …

Here we report for the first time on the maternal transmission of mild Coffin–Siris syndrome
(CSS) caused by a SOX11 missense variant. We present two sisters with intellectual …

Abstract Background Coffin–Siris syndrome is an extremely rare syndrome associated with
developmental and congenital anomalies. It is caused by heterozygous pathogenic variants …

A previous study suggested that human Coffin-Siris syndrome is related to the mutation of
SOX11. Since the homozygous SOX11 mutant mice died soon after birth, no suitable model …

Abstract Coffin-Siris Syndrome 4 is an autosomal dominant congenital malformation
syndrome caused by heterozygous mutations in the SMARCA4 gene with its main features …