Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review
A Kohil, AM Abdallah, K Hussain… - Orphanet Journal of Rare …, 2023 - Springer
Abstract Background Woodhouse-Sakati syndrome (WSS) is a rare, autosomal recessive
genetic disorder with variable clinical manifestations mainly affecting the endocrine and …
genetic disorder with variable clinical manifestations mainly affecting the endocrine and …
Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar …
R Ali, N Al‐Dewik, S Mohammed… - American Journal of …, 2022 - Wiley Online Library
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 …
ectodermal disorder caused by variants in the DCAF17 gene. In Qatar, the c. 436delC …
A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans
H Manzoor, H Zahid, CA Emerling, KR Kumar… - European Journal of …, 2023 - nature.com
Neuromuscular disorders encompass a broad range of phenotypes and genetic causes. We
investigated a consanguineous family in which multiple patients had a neuromuscular …
investigated a consanguineous family in which multiple patients had a neuromuscular …
Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
V Wakim, ME Dassouki, A Azar, A Hani… - Journal of Rare …, 2024 - Springer
Woodhouse-Sakati syndrome (WSS) is a rare eponymous disease described by Drs.
Woodhouse and Sakati in 1983 as a syndrome of hypogonadism, alopecia, diabetes …
Woodhouse and Sakati in 1983 as a syndrome of hypogonadism, alopecia, diabetes …
Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
Abstract Background Woodhouse‐Sakati syndrome is a rare autosomal recessive disease
with endocrine and neuroectodermal aberrations with heterogeneous phenotypes and …
with endocrine and neuroectodermal aberrations with heterogeneous phenotypes and …
Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
G Chen, L Zhou, Q Chen, J Wang, P Jiang… - Frontiers in …, 2021 - frontiersin.org
Woodhouse-Sakati syndrome (WSS, MIM 241080) is a rare neuroendocrine disease
characterized by hair loss, hypogonadism, diabetes, hearing loss, and extrapyramidal …
characterized by hair loss, hypogonadism, diabetes, hearing loss, and extrapyramidal …
Woodhouse-Sakati Syndrome
A Rani, R Mouneesha, H Jacob… - Genetic Syndromes: A …, 2023 - Springer
Springer MRW: [AU:, IDX:] Page 1 Woodhouse-Sakati Syndrome Avanthika Rani,
Rachamadugu Mouneesha, Hridhya Jacob, and Abilash Valsala Gopalakrishnan Contents …
Rachamadugu Mouneesha, Hridhya Jacob, and Abilash Valsala Gopalakrishnan Contents …