A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle-Am J Med Genet Part A 161A: 3121-3125

Diana D. Villarreal, Humberto Villarreal, Ana Maria Paez, Dennis Peppas, Jane Lynch, Elizabeth Roeder, George C. Powers

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