228 BAT specific deletion of Sirt5 exhibits hypersuccinylation of proteins involved in the amino acid metabolism, ETC and FAO
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The following materials: Xpd TTD/TTD mice
Major Criteria Short stature (progressive in childhood) Muscle hypotonia (ranging from severe congenital to mild later onset) Bowing of limbs Minor Criteria Skin hyperextensibility, soft, doughy skin, thin, translucent skin Pes planus Delayed motor development Osteopenia Delayed cognitive development Gene-Specific Minor Criteria B4GALT7 Radioulnar synostosis Bilateral elbow contractures or limited elbow movement Generalized joint hypermobility Single transverse palmar crease Characteristic craniofacial features Characteristic radiographic findings Severe hypermetropia Clouded cornea B3GALT6 Kyphoscoliosis (congenital or early onset, progressive) Joint hypermobility (generalized or restricted to distal joints, with joint dislocations) Joint contractures (congenital or progressive, especially hands) Peculiar fingers (slender, tapered, arachnodactyly, spatulate, with broad distal phalanges) Talipes equinovarus Characteristic craniofacial features Tooth discoloration, dysplastic teeth Characteristic radiographic findings Osteoporosis with multiple spontaneous fractures Ascending aortic aneurysm Lung hypoplasia, restrictive lung disease SLC39A13 Protuberant eyes with bluish sclerae Hands with finely wrinkled palms Atrophy of the thenar muscles and tapering fingers Hypermobility of distal joints Characteristic radiologic findings FAQs What features suggest a person might have a type of EDS or HSD
