Recent MRI advances allow depicting differences between the various subtypes of NBIA,
providing a useful analytical framework for clinicians. Standardization of protocols for image …

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

Abstract Background Woodhouse–Sakati syndrome (WSS) is a rare autosomal recessive
disease with characteristic neuro-endocrine manifestations. WSS encompasses …

Woodhouse–Sakati syndrome consists of hypogonadism, diabetes mellitus, alopecia, ECG
abnormalities, and dystonia. This condition is caused by the loss of function of the DCAF17 …

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 …

Neurodegeneration with brain iron accumulation (NBIA) is a rare and inherited spectrum of
movement disorders caused by mutations affecting the function of proteins that participate in …

Woodhouse–Sakati syndrome (WSS)(OMIM# 241080) is a rare multi-system autosomal
recessive disease with homozygous mutation of the DCAF17 gene. The main features of …

Background: Woodhouse–Sakati syndrome (WSS) is a rare multisystemic disease resulting
from an autosomal recessive gene mutation characterized by distinctive facial appearance …

Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neurodegenerative
genetic disorder caused by mutations in the DCAF17 gene. It primarily manifests with …

Woodhouse-Sakati syndrome (WSS) is a rare eponymous disease described by Drs.
Woodhouse and Sakati in 1983 as a syndrome of hypogonadism, alopecia, diabetes …