ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0016.6-5 | New Functions of (Old) Genes | ESPEYB16

6.5. Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development

P Sproll , W Eid , CR Gomes , BB Mendonca , NL Gomes , EM Costa , A Biason-Lauber

Mol Genet Genomic Med. 2018 Sep;6(5):785–795.doi: 10.1002/mgg3.445. PubMed PMID: 29998616Chromobox protein homolog 2 (CBX2) has two isoforms, CBX2.1 and the shorter CBX2.2. CBX2.1 was previously shown to be essential for male gonadal development, when a mutation was identified in a girl with 46,XY DSD. CBX2.1 stimulates male-specific...
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Published by BioScientifica

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