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ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

An indispensable reference tool endorsed by the European Society for Paediatric Endocrinology

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ey0015.6-13 | Disorders of Sex Development: New paradigm | ESPEYB15

6.13 A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD

Y Naasse , A Bakhchane , H Charoute , F Jennane , J Bignon-Topalovic , A Malki , A Bashamboo , A Barakat , H Rouba , K McElreavey

To read the full abstract: Sex Dev. 2017;11(5-6):269-274[Comments on 6.11, 6.12 and 6.13] Evidence for factors necessary for female sexual development are presented in the above 3 publications. Studies of 46,XX DSD individuals show compiling evidence for factors necessary for female development and to counteract...

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

6.13 A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD

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