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Paper Details

S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome.
EMBO Mol Med
10
2022
CAOP syndrome, ETFA, ETFB, MBTPS1, Mitochondrial abnormalities, Mitochondrial dysfunction, Patient, S1P, S1P defects, S1P variants, alopecia, autosomal recessive defect, cataract, fatty acid, inflammatory lesions, mitochondrial membrane-bound transcription factor peptidase/site-1 protease, oral mucosal disorder, patient, patients, psoriasis-like (CAOP) syndrome, psoriasis-like syndrome, riboflavin
Author NameAffiliation
Yiran GuoCenter for Data Driven Discovery in Biomedicine, Children's Hospital of Philadelphia
Yiran GuoCenter for Data Driven Discovery in Biomedicine, Children's Hospital of Philadelphia
Anne SlavotinekUniversity of California San Francisco
Anne SlavotinekUniversity of California San Francisco
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