Adrenal Dysfunction in Mitochondrial Diseases by Madeleine Corkery-Hayward, Louise A. Metherell

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Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report by Naseer Ali, Avinaash Vickram Maharaj, Federica Buonocore, John C. Achermann, Louise A. Metherell

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GENETIC DEFECTS IN THE GROWTH HORMONE-IGF-I AXIS CAUSING GROWTH HORMONE INSENSITIVITY AND IMPAIRED LINEAR GROWTH by Martin O. Savage, Vivian eHwa, Alessia eDavid, Ron G. Rosenfeld, Louise A. Metherell

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Whole Exome Sequencing for the differential diagnosis of primary adrenal insufficiency in children by Li F Chan, Daniel C Campbell, Tatiana V Novoselova, Adrian JL Clark, Louise A Metherell

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ACTH signalling and adrenal development: lessons from mouse models by Tatiana V Novoselova, Peter J King, Leonardo Guasti, Louise A Metherell, Adrian J L Clark, Li F Chan

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Ichthyosis linked to sphingosine 1-phosphate lyase insufficiency is due to aberrant sphingolipid and calcium regulation by Christopher J. Smith, Jack L. Williams, Charlotte Hall, Josefina Casas, Matthew P. Caley, Edel A. O'Toole, Rathi Prasad, Louise A. Metherell

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GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients by Sumana Chatterjee, Emily Cottrell, Stephen J Rose, Talat Mushtaq, Avinaash V Maharaj, Jack Williams, Martin O Savage, Louise A Metherell, Helen L Storr

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Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction by Nadia Farooqi, Louise A. Metherell, Isabelle Schrauwen, Anushree Acharya, Qayum Khan, Liz M. Nouel Saied, Yasir Ali, Hamed A. El-Serehy, Fazal Jalil, Suzanne M. Leal

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