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Tong, Patrick Y

10.1373/clinchem.2004.036418 68 LataS.MarasaM.LiY.FaselD

Work from Grant Mitchell and Jiang Wei Wu demonstrated a physiological significance to the transacylase function of PNPLA2, where PNPLA2 could synthesize TAGs from DAGs (23)

To meet the diagnostic criteria for dEDS, a person must meet: Major criterion 1 AND major criterion 2 AND at least one other major criterion OR Major criterion 1 AND major criterion 2 AND at least three minor criteria Major Criteria Extreme skin fragility with congenital or postnatal skin tears Characteristic craniofacial features, which are evident at birth or early infancy or evolve later in childhood Redundant, almost lax skin, with excessive skin folds at the wrists and ankles Increased palmar wrinkling Severe bruisability with a risk of subcutaneous hematomas and hemorrhage Umbilical hernia Postnatal growth retardation Short limbs, hands, and feet Perinatal complications due to connective tissue fragility Minor Criteria Soft and doughy skin texture Skin hyperextensibility Atrophic scars Generalized joint hypermobility Complications of visceral fragility (e.g., bladder rupture, diaphragmatic rupture, rectal prolapse) Delayed motor development Osteopenia Hirsutism Tooth abnormalities Refractive errors (myopia, astigmatism) Strabismus Kyphoscoliotic EDS (kEDS) If a person meets the diagnostic criteria for kEDS, genetic testing should be done to confirm the diagnosis

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