The SOX proteins belong to the superfamily of transcription factors (TFs) that display
properties of both classical TFs and architectural components of chromatin. Since the …

OBJECTIVE SOX3 is located on the long arm of the X chromosome (Xq27. 1) and both the
under-and over-expression of this gene have been reported in cases of hypopituitarism with …

Context: SOX3 is an early developmental transcription factor involved in pituitary
development. In humans, over-and underdosage of SOX3 is associated with X-linked …

Abstract Objective Neural tube defects (NTDs) are one of the most common congenital
anomalies caused by a complex interaction of many genetic and environmental factors. In …

Background SOX3 is essential for pituitary development normally at the earliest stages of
development. In humans, variants of SOX3 can cause X-linked hypopituitarism with various …

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 …

Essentials• Some hemophilia B (HB) patients with complete F9 deletion present with
intellectual disability (ID).• We delineate six F9 complete deletions and investigate …

Purpose Congenital hypopituitarism (CH) can cause significant morbidity or even mortality.
In the majority of patients, the etiology of CH is unknown. Understanding the etiology of CH …

Background Hemophilia B is an X‐linked recessive disorder caused by mutations in the F9
on Xq27. 1. Mainly males are affected but about 20% of female carriers have clotting factor …

Hypopituitarism is defined as the deficiency of one or more of the anterior pituitary
hormones: growth hormone, thyroid stimulating hormone, lutenizing hormone, follicle …