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Akademický článek

P515: Uncertainty and information management for Lynch syndrome in a genomic screening cohort: Connections to clinical engagement

Autor: Miranda Hallquist, Brooke Delehoy, Reem Bux, Gemme Campbell-Salome

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101414- (2024)

Externí odkaz: https://doaj.org/article/e7d9e2fbce7948548df82d1b20ece801

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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

Autor: Rehab, Ali, Nader, Al-Dewik, Shayma, Mohammed, Mahmud, Elfituri, Sahar, Agouba, Sara, Musa, Laila, Mahmoud, Mariam, Almulla, Karen, El-Akouri, Howaida, Mohd, Reem, Bux, Hajer, Almulla, Amna, Othman, Fatma, Al-Mesaifri, Noora, Shahbeck, Mariam, Al-Muriekhi, Amal, Khalifa, Reem, Al-Sulaiman, Tawfeg, Ben-Omran

Publikováno v: American journal of medical genetics. Part AREFERENCES. 188(1)

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 variant has been reported as a possible founder pathogenic variant with striking pheno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4c72a362d84a8076c7051cfd88014dde
https://pubmed.ncbi.nlm.nih.gov/34590781

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