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Metabolomic analysis of mouse brains LC-MS/MS Metabolites were extracted from mouse brain tissues ( Tbx1 + / and WT) for targeted metabolome analysis by liquid chromatographytandem mass spectrometry (LC-MS/MS)

DeLeonibus, A

Major Criteria Family history of vEDS with a documented causative variant in COL3A1 Arterial rupture at a young age Spontaneous sigmoid colon perforation in the absence of known diverticular disease or other bowel pathology Uterine rupture during the third trimester in the absence of previous C-section and/or severe peripartum perineum tears Carotid-cavernous sinus fistula (CCSF) formation in the absence of trauma Minor Criteria Bruising unrelated to identified trauma and/or in unusual sites such as the cheeks and back Thin, translucent skin with increased venous visibility Characteristic facial appearance Spontaneous pneumothorax Acrogeria Talipes equinovarus Congenital hip dislocation Hypermobility of small joints Tendon and muscle rupture Keratoconus Gingival recession and gingival fragility Early-onset varicose veins (under age 30 and starting before pregnancy if female) If a person meets the diagnostic criteria for aEDS, genetic testing should be done to confirm the diagnosis

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