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Autor:
Elise, Héon, Carol, Westall, Rivka, Carmi, Khalil, Elbedour, Carole, Panton, Leslie, Mackeen, Edwin M, Stone, Val C, Sheffield
Publikováno v:
American journal of medical genetics. Part A. (3)
Bardet-Biedl syndrome is a genetically heterogeneous multisystem disorder that causes severe visual impairment. Retinitis pigmentosa (RP), hypogonadism, digit and renal anomalies, obesity, and a variable degree of mental retardation characterize the