Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in DCAF17 : Report of 58 additional patients from Qatar and literature review-Reference-Cited by-同舟云学术

Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in DCAF17 : Report of 58 additional patients from Qatar and literature review

Published:2021-09-30 Issue:1 Volume:188 Page:116-129
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Ali Rehab¹²,Al‐Dewik Nader¹³⁴^ORCID,Mohammed Shayma⁵,Elfituri Mahmud⁵,Agouba Sahar¹^ORCID,Musa Sara¹,Mahmoud Laila¹,Almulla Mariam¹²,El‐Akouri Karen¹²^ORCID,Mohd Howaida¹,Bux Reem¹,Almulla Hajer¹,Othman Amna¹,Al‐Mesaifri Fatma¹,Shahbeck Noora¹²,Al‐Muriekhi Mariam¹²,Khalifa Amal⁶,Al‐Sulaiman Reem¹⁷,Ben‐Omran Tawfeg¹²⁷⁸^ORCID

Affiliation:

1. Department of Adult and Pediatric Medical Genetics Hamad Medical Corporation Doha Qatar

2. Division of Genetic and Genomic Medicine Sidra Medicine Doha Qatar

3. Interim Translational Research Institute Hamad Medical Corporation Doha Qatar

4. Genomics and Precision Medicine (GPM) , College of Health and Life Sciences Hamad Bin Khalifa University Doha Qatar

5. Department of Pediatrics, Hamad General Hospital Hamad Medical Corporation Doha Qatar

6. Division of Endocrinology Department of Pediatric Medicine, Sidra Medicine Doha Qatar

7. National Center for Rare Diseases Hamad Medical Corporation Doha Qatar

8. Department of Pediatrics Weill Cornell Medical College Doha Qatar

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62501

Reference41 articles.

1. Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse–Sakati syndrome

2. Brain MRI findings in Woodhouse‐Sakati syndrome (P6.071);Abusrair A.;Neurology,2018

3. Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature

4. Primary hypogonadism and partial alopecia in three sibs with Müllerian hypoplasia in the affected females

5. C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients

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