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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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ESPE Yearbook of Paediatric Endocrinology

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

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