Congenital hypogonadotropic hypogonadism (CHH) is a rare endocrine disorder that results
in reproductive hormone deficiency and reduced potential for fertility in adult life. Discoveries …

Methylation tests have been used for decades in regular DNA diagnostics focusing primarily
on Imprinting disorders or specific loci annotated to specific disease associated gene …

Purpose ATP2B2 encodes the variant-constrained plasma-membrane calcium-transporting
ATPase-2, expressed in sensory ear cells and specialized neurons. ATP2B2/Atp2b2 …

Gonadotropin-releasing hormone (GnRH) deficiency (GD) is a disorder characterized by
absent or delayed puberty, with largely unknown genetic causes. The purpose of this study …

Pitt‐Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder characterised by
severe intellectual disability (ID), distinctive facial features and autonomic nervous system …

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 …

Background: The SMARCB1 gene encodes a subunit of the BRG1-Associated Factor (BAF)
complex, and mutations in this gene have been linked to Coffin-Siris Syndrome (CSS) type …

SOX proteins are transcription factors which play a role in regulating the development of
progenitor cells and tissue differentiation. Twenty members are known, clustered in eight …

Background SOX11 syndrome is a rare condition caused by deletions or de novo point
mutations of the SOX11 gene. SOX11 is a transcription factor gene that plays an important …

Objective Individuals with neurodevelopmental disorders such as global developmental
delay (GDD) present both genotypic and phenotypic heterogeneity. This diversity has …