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ey0016.4-1 | Important for Clinical Practice | ESPEYB16

4.1. Growth hormone improves short-term growth in patients with temple syndrome

DS Brightman , O Lokulo-Sodipe , B Searle , DJG Mackay , JH Davies , IK Temple , A Dauber

To read the full abstract: Horm Res Paediatr. 2018;90:407413.Temple syndrome (TS) is a rare imprinting disorder caused by the dysregulation of imprinted genes in the chromosomal region 14q32 [1]. Most cases (approximately 7080%) are caused by maternal uniparental disomy of chromosome 14. Paternal deletions and primary imprinting defects involving chromosomal region 14q32 can ...

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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

4.1. Growth hormone improves short-term growth in patients with temple syndrome

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

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