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...
محفوظ في:
| المؤلف الرئيسي: | |
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| مؤلفون آخرون: | , , , , , , , , , , , , , , , , , |
| منشور في: |
2021
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| الموضوعات: | |
| الوسوم: |
إضافة وسم
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