The syndromes of neurodegeneration with brain iron accumulation (NBIA) encompass a
group of invalidating and progressive rare diseases that share the abnormal accumulation of …

As a member of the Cullin-RING ligase family, Cullin-RING ligase 4 (CRL4) has drawn much
attention due to its broad regulatory roles under physiological and pathological conditions …

Approximately 14.5 million Pakistani individuals have a hearing loss and half of these cases
may be due to genetic causes. Though significant progress has been made in uncovering …

Neuromuscular disorders encompass a broad range of phenotypes and genetic causes. We
investigated a consanguineous family in which multiple patients had a neuromuscular …

Abstract Cullin-RING ligase 4 (CRL4), a member of the cullin-RING ligase family,
orchestrates a variety of critical cellular processes and pathophysiological events. Recent …

Virtually all individuals with Woodhouse-Sakati syndrome (WSS) have the endocrine
findings of hypogonadism (evident at puberty) and progressive childhood-onset hair …

Abstract Background Woodhouse-Sakati syndrome (WSS) is a rare, autosomal recessive
genetic disorder with variable clinical manifestations mainly affecting the endocrine and …

Woodhouse‐Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine and
ectodermal disorder caused by variants in the DCAF17 gene. In Qatar, the c. 436delC …

Loss‐of‐function DCAF17 variants cause hypogonadism, partial alopecia, diabetes mellitus,
mental retardation, and deafness with variable clinical presentation. DCAF17 pathogenic …

Abstract Woodhouse–Sakati Syndrome is a very rare autosomal recessive disorder caused
by pathogenic variants in the DCAF17 gene, which encodes DDB1‐and CUL4‐associated …