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Paper Details

Bardet-Biedl Syndrome in an African-American patient: should the diagnostic criteria be expanded to include hydrometrocolpos?
Ophthalmic Genet
5
2007
BBS, Bardet-Biedl Syndrome, Hirschprung disease, MKKS, McKusick-Kaufman Syndrome, cerebral disturbance, cognitive dysfunction, girl, hydrometrocolpos, hypertension, hypogonadism, mouse, multisystemic disorder, neurological abnormalities, obesity, patient, periventricular leukomalacia, polydactyly, precocious puberty, renal cysts, renal malformations, retinal dystrophy, retinitis pigmentosa

Datasets

Release 1.2