Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity

Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity

Abstract Woodhouse-Sakati syndrome (WSS) is a rare eponymous disease described by Drs. Woodhouse and Sakati in 1983 as a syndrome of hypogonadism, alopecia, diabetes mellitus, intellectual disability, and ECG abnormalities. A couple of years later, a variant in the gene DCAF17 (DDB1 and CUL4-associa...

Full description

Bibliographic Details
Main Authors: Victor Wakim, Mohammad El Dassouki, Ahlam Azar, Abeer Hani, Cybel Mehawej, Eliane Chouery, Marie-Jeanne Baroudi, Gerard Wakim
Format: Article
Language:English
Published: Springer 2024-07-01
Series:Journal of Rare Diseases
Subjects:
Woodhouse-Sakati syndrome
Intra-familial variability
Rare disease
DCAF17
Online Access:https://doi.org/10.1007/s44162-024-00045-y

Internet

https://doi.org/10.1007/s44162-024-00045-y

Similar Items