ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 2 results

ey0018.6-9 | Patient Related Outcomes | ESPEYB18

6.9. Early Genital Surgery in Disorders/Differences of Sex Development: Patients' Perspectives

E Bennecke , S Bernstein , P Lee , TC van de Grift , A Nordenskjold , M Rapp , M Simmonds , JC Streuli , U Thyen , C Wiesemann

Arch Sex Behav. 2021 Apr;50(3):913–923. doi: 10.1007/s10508-021-01953-6. PMID: 33712989This paper describes a patient cohort study of 459 individuals with various DSD diagnoses, as part of the dsd-LIFE study. Patients were included at 14 different sites in 6 European countries.Genital surgery has been increasingly questioned in the past decade. Both the timin...
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ey0016.5-6 | New Insight into Rare Skeletal Disorders | ESPEYB16

5.6. Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

G Grigelioniene , HI Suzuki , F Taylan , F Mirzamohammadi , ZU Borochowitz , UM Ayturk , S Tzur , E Horemuzova , A Lindstrand , MA Weis , G Grigelionis , A Hammarsjo , E Marsk , A Nordgren , M Nordenskjold , DR Eyre , ML Warman , G Nishimura , PA Sharp , T Kobayashi

Abstract: Nat Med. 2019 Apr;25(4):583–590. PMID: 30804514In brief: This study describes the first skeletal dysplasia caused by a mutation in a microRNA that is not simply inactivating, but modifies the repertoire of target genes.Comment: MicroRNAs (miRNAs) are small (20–24 nucleotides) noncoding RNA molecules that post-transcriptio...
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Published by BioScientifica

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