A novel sex-determining region on Y (SRY) nonsense mutation identified in a 45,X/47,XYY female
Author:
Publisher
Elsevier BV
Subject
Obstetrics and Gynaecology,Reproductive Medicine
Reference4 articles.
1. The role of SRY in mammalian sex determination;Fechner;Acta Paediatr Jpn,1996
2. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases;Hsu;Am J Med Genet,1994
3. Detection of SRY in 45,X/47,XYY mosaicism leading to phenotypic female;Imai;Clin Genet,1997
4. Paternal somatic and germ-line mosaicism for a sex-determining region on Y (SRY) missense mutation leading to recurrent 46,XY sex reversal;Hines;Fertil Steril,1997
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1. Novel pathogenic mutations in disorders of sex development associated genes cause 46,XY complete gonadal dysgenesis;Gene;2019-11
2. Genetic and epigenetic effects in sex determination;Birth Defects Research Part C: Embryo Today: Reviews;2016-12
3. A Case of 45,X/47,XYY Mosaicism in a Male Fetus With a Hypoplastic Nasal Bone;Journal of Ultrasound in Medicine;2015-02
4. SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype;BMC Medical Genetics;2012-11-16
5. The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants;Hormone Research in Paediatrics;2011
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