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May R. Mutlaq on Muck Rack

May R. Mutlaq

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Articles

Saul Wilson Syndrome: A Case Report With New Features in Saudi Arabia

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By Eissa A Faqeih, Leen Abu-Safieh, Fatimah H. Abusrair, May R. Mutlaq
| Wiley Online Library Verified
1 Introduction Saul Wilson syndrome (SWS) is a rare condition of microcephalic primordial dwarfism. A heterozygous de novo missense mutation (p.Gly516Arg) in the COG4 gene, which encodes one of eight subunits of the conserved oligomeric Golgi complex, has been identified as a leading cause of this condition [1, 2].
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