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Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome
Molecular Therapy, 2017Cedric R Uytingco +2 more
exaly
Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China
Frontiers in Genetics, 2023exaly
Journal of the American Optometric Association, 1991
Tapetoretinal degeneration, obesity, polydactyly, mental retardation, and hypogonadism are the cardinal signs of Bardet-Biedl syndrome. Formerly grouped with Laurence-Moon syndrome, Bardet-Biedl has established itself as a separate entity. It is one of the rare systemic diseases associated with a form of retinitis pigmentosa.
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Tapetoretinal degeneration, obesity, polydactyly, mental retardation, and hypogonadism are the cardinal signs of Bardet-Biedl syndrome. Formerly grouped with Laurence-Moon syndrome, Bardet-Biedl has established itself as a separate entity. It is one of the rare systemic diseases associated with a form of retinitis pigmentosa.
openaire +1 more source
Reversible hypogonadism in Bardet-Biedl syndrome
Fertility and Sterility, 2009Rima Dada, Nikhil Tandon
exaly
Genital abnormalities in females with Bardet-Biedl syndrome
American Journal of Medical Genetics Part A, 1995John T Herrin, Lewis B Holmes
exaly
Thoraco-Abdominal Abnormalities in Bardet-Biedl Syndrome: Situs Inversus and Heterotaxy
Journal of Pediatrics, 2019Robert M Haws
exaly
Cardiac abnormalities in the Bardet-Biedl syndrome: Echocardiographic studies of 22 patients
American Journal of Medical Genetics Part A, 1994Khalil Elbedour +2 more
exaly