ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0016.7-5 | Genetics of Puberty | ESPEYB16

7.5. EAP1 regulation of GnRH promoter activity is important for human pubertal timing

A Mancini , SR Howard , CP Cabrera , MR Barnes , A David , K Wehkalampi , S Heger , A Lomniczi , L Guasti , SR Ojeda , L Dunkel

To read the full abstract: Hum Mol Genet. 2019 Apr 15;28(8):1357–1368.This whole-exome study from a large cohort of familial self-limited delayed puberty identifies the first EAP1 mutations leading to reduced GnRH transcriptional activity and resulting in a phenotype of self-limited delayed-puberty.Enhanced at puberty 1 (EAP1) is a nuclear trans...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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