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

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

<p dir="ltr">Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine and ectodermal disorder caused by variants in the <i>DCAF17</i> gene. In Qatar, the c.436delC variant has been reported as a possible founder pathogenic variant with striking phenoty...

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Main Author: Rehab Ali (14152668) (author)
Other Authors: Nader Al‐Dewik (14777014) (author), Shayma Mohammed (13020777) (author), Mahmud Elfituri (14777017) (author), Sahar Agouba (14777020) (author), Sara Musa (14152662) (author), Laila Mahmoud (14777023) (author), Mariam Almulla (14152656) (author), Karen El‐Akouri (14776951) (author), Howaida Mohd (14777026) (author), Reem Bux (14777029) (author), Hajer Almulla (14152650) (author), Amna Othman (14152659) (author), Fatma Al‐Mesaifri (14776963) (author), Noora Shahbeck (14152671) (author), Mariam Al‐Muriekhi (14777032) (author), Amal Khalifa (14777035) (author), Reem Al‐Sulaiman (14776948) (author), Tawfeg Ben‐Omran (14776975) (author)
Published: 2021
Subjects:
Biological sciences
Genetics
Biomedical and clinical sciences
Clinical sciences
c.436delC
DCAF17 gene
founder pathogenic variant
Qatar
variable clinical manifestations
Woodhouse-Sakati syndrome
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