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ea0037s11.1 | Hot topics and IESP symposia | ECE2015

X-linked acro-gigantism (X-LAG): a new form of infant-onset pituitary gigantism

Trivellin Giampaolo , Daly Adrian F. , Faucz Fabio R. , Yuan Bo , Rostomyan Liliya , Larco Darwin O. , Bjelobaba Ivana , Leal Leticia F. , Schernthaner-Reiter Marie Helene , Dimopoulos Aggeliki , Chittiboina Prashant , Choong Catherine S. , Kamenicky Peter , Wu T. John , Costanzi Stefano , Feldman Benjamin , Stojilkovic Stanko S. , Lupski James R. , Beckers Albert , Stratakis Constantine A.

Introduction: Pituitary gigantism is a rare disorder caused by GH-secreting lesions.Aim: We studied gigantism for genetic defects.Methods: We performed genome-wide analyses in 46 patients with gigantism and 248 patients with acromegaly.Results: We detected a novel microduplication at chromosome Xq26.3 in two unrelated kindreds and 13 sporadic cases de novo. All patients had disease onset before five ...

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X-linked acro-gigantism (X-LAG): a new form of infant-onset pituitary gigantism

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