Hydrometrocolpos and acute renal failure: A rare neonatal presentation of Bardet–Biedl syndrome

The Cardinal Manifestations of Bardet–Biedl Syndrome, a Form of Laurence–Moon–Biedl Syndrome

Jane S. Green, P S Parfrey, J D Harnett et al. · New England Journal of Medicine · 1989 · 556 citations

Medicine, Endocrinology, Ophthalmology +12

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

Deborah L. Stone, Anne Slavotinek, Gerard G. Bouffard et al. · Nature Genetics · 2000 · 201 citations

Life Sciences, Genetics, Molecular Genetics +10

Bardet-Biedl Syndrome and Related Disorders

Andrew Schachat, Irene H. Maumenee · Archives of Ophthalmology · 1982 · 186 citations

Medicine, Otolaryngology, Pediatrics +6

Hydrometrocolpos as a Simply Inherited Malformation

Victor A. McKusick, Robert L. Bauer, C. Everett Koop et al. · JAMA · 1964 · 123 citations

Life Sciences, Genetics, Molecular Genetics +14

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes

Pierre Bitoun, Didier Lacombe, A Nivelon et al. · Journal of Medical Genetics · 1999 · 118 citations

Medicine, Genetics, Pediatrics +15