Exome sequencing revealed a novel biallelic deletion in theDCAF17gene underlying Woodhouse Sakati syndrome-Reference-Cited by-同舟云学术

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Exome sequencing revealed a novel biallelic deletion in theDCAF17gene underlying Woodhouse Sakati syndrome

Published:2016-01-19 Issue:3 Volume:90 Page:263-269
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Ali R.H.¹²,Shah K.¹,Nasir A.³,Steyaert W.²,Coucke P.J.²,Ahmad W.¹

Affiliation:

1. Department of Biochemistry, Faculty of Biological Sciences; Quaid-i-Azam University; Islamabad Pakistan

2. Center for Medical Genetics; Ghent University Hospital; Ghent Belgium

3. Department of Biochemistry, Computational Medicinal Chemistry Laboratory, UCSS; Abdul Wali Khan University Mardan; Mardan Pakistan

Funder

Higher Education Commission, Pakistan

International Research Support Initiative Program

Belgium from Higher Education Commission

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference21 articles.

1. Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature;Agopiantz;J Endocrinol Invest,2014

2. A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities;Woodhouse;J Med Genet,1983

3. Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1;Al-Semari;Am J Med Genet A,2007

4. Woodhouse Sakati syndrome associated with bilateral keratoconus;Al-Swailem;Br J Ophthalmol,2006

5. Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome;Alazami;Am J Hum Genet,2008

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1. Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity;Journal of Rare Diseases;2024-07-23

2. Woodhouse-Sakati syndrome: A review;Revue Neurologique;2024-02

3. A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans;European Journal of Human Genetics;2023-02-17

4. Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review;Orphanet Journal of Rare Diseases;2023-01-31

5. Three Siblings With Woodhouse-Sakati Syndrome: A Case Report of A New Saudi Family;Cureus;2022-12-05

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