The Y chromosome located gene SRY (sex determining region Y gene) was identified in the search for the mammalian testis determining factor (TDF). Approaches for evaluating SRY as a candidate for TDF included the finding of mutations in SRY in the genomes of patients with failed testis development (X
β¦ LIBER β¦
Ascertainment and mutational studies ofSRY in nine XY females
β Scribed by Graves, Penelope E.; Davis, Diana; Erickson, Robert P.; Lopez, Marisol; Kofman-Alfaro, Susana; Mendez, Juan P.; Speer, Isabell E.
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 14 KB
- Volume
- 83
- Category
- Article
- ISSN
- 0148-7299
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## Abstract Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive syndrome characterized by the presence of spondyloepiphyseal dysplasia associated with pain, stiffness, and swelling of multiple joints, osteoporosis, and the absence of destructive bone changes. The disorder is