Folami Duncan
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Growth Standards for Children With Smith–Magenis Syndrome (<span>SMS</span>) Open
Smith–Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid‐1 ( RAI1 ) gene either by a pathogenic seq…
A diagnosis of <span>Birt–Hogg–Dubé</span> syndrome in individuals with <span>Smith–Magenis</span> syndrome: Recommendation for cancer screening Open
We report a series of four unrelated adults with Smith–Magenis syndrome (SMS) and concomitant features of Birt–Hogg–Dubé (BHD) syndrome based upon haploinsufficiency for FLCN and characteristic renal cell carcinomas and/or evidence of cuta…