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MSMO1 Deficiency: a Potentially Partially Treatable, Ultrarare Neurodevelopmental Disorder with Psoriasiform Dermatitis, Alopecia and Polydactyly.

Tinatin Tkemaladze,Eirik Bratland,Kakha Bregvadze,Teona Shatirishvili,Nino Tatishvili,Elene Abzianidze,Gunnar Houge,Sofia Douzgou

CLINICAL DYSMORPHOLOGY（2023）

Cited 3|Views7
Key words
alopecia,cholesterol,MSMO1,polydactyly,psoriasiform dermatitis,SC4MOL,statin,sterol metabolism disorders
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