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A non-lethal presentation of osteogenesis imperfecta type VIII due to homozygous mutation in P3H1 geneSavita Khadse, Prakruthi Shankaramurthy, Nikhil Shah, Radha Ghildiyal
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Familial tumoral calcinosis: a rare autosomal recessive diseaseHeberth Moran, Monique Malvar, Simge Yuksel, David Bleich
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Xanthelasma and arginine vasopressin deficiency (central diabetes insipidus), think Erdheim Chester diseaseXing Sun, Roy Khalife, James Worrall, Heather Lochnan
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Near-fatal pheochromocytoma crisis after beta-blocker and tumour haemorrhageDivya Madhavarapu, Anthony Asta, Gizem Reyhanoglu, Antoni Kafrouni Gerges
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Early presentation of urological abnormalities in a case of Wolfram syndromeShilika Lalwani, Vikram Singh Shekhawat, Amit Nachankar, Aradhana Dwivedi
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Tailoring an antihyperglycaemic regimen to a monogenic diabetes variantSamuel Nemiroff, Peter Goulden
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Primary adrenal insufficiency with normal male external genitalia in a boy with CYP11A1 deficiencySibi Kaivallyam Ramachandran, Shaju Edavana, Sahla Moolath, Ahmad Alam
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