ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0017.1-2 | Update on the Genetics of Hypopituitarism | ESPEYB17

1.2. Mutations in MAGEL2 and L1CAM are associated with congenital hypopituitarism and arthrogryposis

LC Gregory , P Shah , JRF Sanner , M Arancibia , J Hurst , WD Jones , H Spoudeas , P Le Quesne Stabej , HJ Williams , LA Ocaka , C Loureiro , A Martinez-Aguayo , MT Dattani

To read the full abstract: J Clin Endocrinol Metab. 2019 Dec 1;104(12):5737–5750. doi: 10.1210/jc.2019-00631. PMID: 31504653.This paper describes two genes and three syndromes that clinicians would probably like to know when treating patients with a syndromic form of panhypopituitarism. Heterozygous mutation in a maternally imprinted gene, MAGEL2, was described in four patients...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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