( 5 ). Donor splice-site mutations (downshifting of the ratio of +KTS (lysine, threonine, and serine) to −KTS isoforms) of intron 9 are responsible for Frasier syndrome (FS, OMIM 136680), comprising of XY gonadal dysgenesis and predisposition to
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Sneha Arya, Sandeep Kumar, Anurag R Lila, Vijaya Sarathi, Saba Samad Memon, Rohit Barnabas, Hemangini Thakkar, Virendra A Patil, Nalini S Shah, and Tushar R Bandgar
Yardena Tenenbaum-Rakover, Osnat Admoni, Ghadir Elias-Assad, Shira London, Marie Noufi-Barhoum, Hanna Ludar, Tal Almagor, Yoav Zehavi, Charles Sultan, Rita Bertalan, Anu Bashamboo, and Kenneth McElreavey
failure and high risk for Wilms tumor, and Frasier syndrome exhibiting nephrotic syndrome with a high risk for gonadoblastoma. In our case, primary testicular failure was observed in the patient at the age of 12 years, but with no renal anomalies. Case 5
Zofia Kolesinska, James Acierno Jr, S Faisal Ahmed, Cheng Xu, Karina Kapczuk, Anna Skorczyk-Werner, Hanna Mikos, Aleksandra Rojek, Andreas Massouras, Maciej R Krawczynski, Nelly Pitteloud, and Marek Niedziela
Frasier syndrome ; TRS; hypospadias AD 11p13 607102 WWOX PGD AD, deletion 16q23.2 ZFPM2 CGD; PGD AD 8q23.1 603693 Disorder of androgen synthesis (DAS) AKR1C2 3α-hydroxysteroid dehydrogenase deficiency AR
