PMON312 A De Novo Heterozygous Nonsense Variant In The SEC31A Gene Associated With Pituitary Hormone Deficiency And Disorders Of Sex Development.
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DOI: 10.1210/jendso/bvac150.1293
Abstract: Abstract Introduction XYdisorders of sex development (DSD) result from variants in many different human genes but frequently have no detectable molecular cause. In approximately 25% of cases of XY DSD, the index case may have… read more here.
Keywords: nonsense variant; sex development; sec31a; sec31a gene ... See more keywords