Osteopoikilosis

Osteopoikilosis(来自ICD-11)

别称:

Dermatofibrosis Lenticularis Disseminata

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Osteopoikilosis, also known as dermatofibrosis lenticularis disseminata, is related to 12q14 microdeletion syndrome and melorheostosis, isolated, and has symptoms including joint stiffness An important gene associated with Osteopoikilosis is LEMD3 (LEM Domain Containing 3), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Mesodermal commitment pathway. Affiliated tissues include bone and breast, and related phenotypes are growth/size/body region and cellular

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