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

1.1. Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation

LC Gregory , CB Ferreira , SK Young-Baird , HJ Williams , M Harakalova , G van Haaften , SA Rahman , C Gaston-Massuet , D Kelberman , Sgene GO , W Qasim , SA Camper , TE Dever , P Shah , ICAF Robinson , MT Dattani

To read the full abstract: EBioMedicine. 2019 Apr;42:470480. doi: 10.1016/j.ebiom.2019.03.013. Epub 2019 Mar 14. PMID: 30878599.Is everyone familiar with the MEHMO syndrome (OMIM #300148)? MEHMO is an acronym for mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity. Previous studies show that patients with MEHMO carrying hemizygous se...

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ey0018.1-7 | Development/Ontogeny | ESPEYB18

1.7. Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans

A Gualtieri , N Kyprianou , LC Gregory , ML Vignola , JG Nicholson , R Tan , SI Inoue , V Scagliotti , P Casado , J Blackburn , F Abollo-Jimenez , E Marinelli , REJ Besser , W Hogler , I Karen Temple , JH Davies , A Gagunashvili , ICAF Robinson , SA Camper , SW Davis , PR Cutillas , EF Gevers , Y Aoki , MT Dattani , C Gaston-Massuet

Nat Commun. 2021 Apr 1;12(1):2028. doi: 10.1038/s41467-021-21712-4. PMID: 33795686.The authors describe 5 patients with Cardio-Facio-Cutaneous (CFC) syndrome with features of septo−optic dysplasia (SOD), and GH/IGF−1 deficiency of variable degree. All were identified to carry a gain−of−function mutation in BRAF.RASopathies encompass Noonan ...

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ESPE Yearbook of Paediatric Endocrinology

1.1. Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation

1.7. Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans

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