Laura D Keppen

TL;DR: Biochemical improvement in sterol levels and in the ratio of cholesterol to total sterols was noted in all patients, and clinical improvement in growth and neurodevelopmental status was also observed.

TL;DR: It is confirmed that respiratory compromise and cranial nerve dysfunction are commonly associated with EGR2 mutations and can be useful in guiding molecular diagnosis.

TL;DR: An increased rate of nontraumatic fractures and other bony and connective tissue abnormalities that support the hypothesis that MSS should be considered an osteochondrodysplasia are demonstrated.

TL;DR: Functional studies in isolated mitochondria demonstrated that the IBD variations present in the Danish newborn disturbed protein folding and reduced the levels of correctly folded IBD tetramers.

TL;DR: Molecular comparison of the deletion in this 3-generation family with an interstitial deletion of the short arm of chromosome 5 suggests that the clinical findings are due specifically to the chromosomal material deleted from 5p13.3.