Global Variome shared LOVD

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Phenotype #0000305219 Individual ID 00413238 Associated disease TAAD Phenotype details Aortic dissection at bilateral ICA, left VA, aorta type. Skin biopsies showed structural abnormalities of skin connective tissue integrity including small-caliber collagen fibrils. Diagnosis/Initial 39 Inheritance Familial Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Oumaima Nehaili Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Oumaima Nehaili Date created 2022-07-13 02:15:13 +02:00 (CEST) Date last edited 2025-01-23 20:02:54 +01:00 (CET)

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