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ey0017.6-7 | Differences/Disorders of Sex Development: Genetics | ESPEYB17

6.7. MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: Bioinformatics consideration

K Hamanaka , A Takata , Y Uchiyama , S Miyatake , N Miyake , S Mitsuhashi , K Iwama , A Fujita , E Imagawa , AN Alkanaq , E Koshimizu , Y Azuma , M Nakashima , T Mizuguchi , H Saitsu , Y Wada , S Minami , Y Katoh-Fukui , Y Masunaga , M Fukami , T Hasegawa , T Ogata , N Matsumoto

To read the full abstract: Hum Mol Genet. 2019, Jul 15; 28: 231929. doi: https://academic.oup.com/hmg/article/28/14/2319/5424416This study provides evidence that MYRF is important in the development of coelomic endothelial derived cells, and early gonadal development in both males and females. It combines detailed phenotypic assessment of patients and whole geno...

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ESPE Yearbook of Paediatric Endocrinology

6.7. MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: Bioinformatics consideration

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