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ey0019.1-10 | Clinical Papers | ESPEYB19

1.10. Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil

EB Trarbach , G Trivellin , IPP Grande , FHG Duarte , AAL Jorge , FBP do Nascimento , HM Garmes , M Nery , BB Mendonca , CA Stratakis , MD Bronstein , RS Jallad

Pituitary. 2021;24(2):252-261. doi: 10.1007/s11102-020-01105-4. PMID: 33156432.Brief Summary: Pituitary gigantism is a rare disease, which can be syndromic, as in McCune-Albright syndrome, Carney complex, MEN1 and MEN4, and the newly described three P association (paraganglioma, pheochromocytoma and pituitary adenoma) (1), or non-syndromic caused by mutations ...

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ey0019.1-11 | Clinical Papers | ESPEYB19

1.11. Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism

M Franke , AF Daly , L Palmeira , A Tirosh , A Stigliano , E Trifan , FR Faucz , D Abboud , P Petrossians , JJ Tena , E Vitali , AG Lania , JL Gomez-Skarmeta , A Beckers , CA Stratakis , G Trivellin

Am J Hum Genet. 2022;109(4):553-570. PMID: 35202564. doi: 10.1016/j.ajhg.2022.02.002.Brief Summary: The authors present elegant data showing that X-LAG is a TADopathy of the endocrine system and that the rewiring of GPR101 -enhancer interactions most likely causes the upregulation of GPR101 expression in X-LAG-related pituitary tumors.The X-LAG micr...

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ESPE Yearbook of Paediatric Endocrinology

1.10. Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil

1.11. Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism

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