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ey0020.1-14 | Pediatric Thyroid Cancer | ESPEYB20

1.14. Longitudinal analysis of cancer risk in children and adults with germline PTEN variants

L Yehia , G Plitt , AM Tushar , J Joo , CA Burke , SC Campbell , K Heiden , J Jin , C Macaron , CM Michener , HJ Pederson , K Radhakrishnan , J Shin , J Tamburro , S Patil , C Eng

Brief summary: PTEN hamartoma tumor syndrome is one of five well known genetic syndromes associated with differentiated thyroid carcinoma (1,2). PTEN hamartoma tumor syndrome comprises four different entities: Cowdwn syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome caused by mutations in the PTEN (phosphatase and tensin homologue) tumor suppressor gene [3]. This prospective longitudinal mu...

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ey0018.1-6 | Development/Ontogeny | ESPEYB18

1.6. The histone H3-lysine 4-methyltransferase Mll4 regulates the development of growth hormone-releasing hormone-producing neurons in the mouse hypothalamus

C Huisman , YA Kim , S Jeon , B Shin , J Choi , SJ Lim , SM Youn , Y Park , K C M , S Kim , SK Lee , S Lee , JW Lee

Nat Commun. 2021 Jan 11;12(1):256. doi: 10.1038/s41467-020-20511-7. PMID: 33431871.These authors report two Mll4 mutant mouse models that exhibited dwarfism and altered development of GHRH−neurons.Inactivating mutations in KDM6A (aka UTX) or KMT2D (aka MLL4) genes result in Kabuki syndrome (KS), whose hallmarks in...

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ESPE Yearbook of Paediatric Endocrinology

1.14. Longitudinal analysis of cancer risk in children and adults with germline PTEN variants

1.6. The histone H3-lysine 4-methyltransferase Mll4 regulates the development of growth hormone-releasing hormone-producing neurons in the mouse hypothalamus

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