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ey0017.1-3 | Update on the Genetics of Hypopituitarism | ESPEYB17

1.3. Mutations in LAMB2 are associated with albuminuria and optic nerve hypoplasia with hypopituitarism

Tahoun Mona , Chandler Jennifer C , Ashton Emma , Haston Scott , Hannan Athia , Kim Ji Soo , D’Arco Felipe , Bockenhauer D , Anderson G , Lin Meei-Hua , Marzouk Salah , Saied Marwa H , Miner Jeffrey H , Dattani Mehul T , Waters Aoife M

To read the full abstract: J Clin Endocrinol Metab. 2020 Mar 1;105(3). pii: dgz216. doi: 10.1210/clinem/dgz216. PMID: 31769495.Septo-optic dysplasia (SOD) involves a combination of midline brain defects, pituitary hormone deficiency, and optical nerve hypoplasia. The etiology of SOD is multifaceted; genetic factors are known to play a role, yet the vast majority of SOD patients remain withou...

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ey0019.3-13 | Paediatric thyroid cancer | ESPEYB19

3.13. NTRK and RET fusion-directed therapy in pediatric thyroid cancer yields a tumor response and radioiodine uptake

YA Lee , H Lee , SW Im , YS Song , DY Oh , HJ Kang , JK Won , KC Jung , D Kwon , EJ Chung , JH Hah , JC Paeng , JH Kim , J Choi , OH Kim , JM Oh , BC Ahn , LJ Wirth , CH Shin , JI Kim , YJ Park

J Clin Invest. 2021 Sep 15;131(18):e144847. doi: 10.1172/JCI144847. PMID: 34237031Brief Summary: This retrospective analysis of clinical, pathologic, and genetic characteristics of n=106 children with differentiated thyroid carcinoma (DCT) showed that fusion oncogene associated papillary thyroid carcinoma (PTC) is more frequent in young children and is associated with larger tumors, extrathyroidal ...

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ESPE Yearbook of Paediatric Endocrinology

1.3. Mutations in LAMB2 are associated with albuminuria and optic nerve hypoplasia with hypopituitarism

3.13. NTRK and RET fusion-directed therapy in pediatric thyroid cancer yields a tumor response and radioiodine uptake

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