The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland

ORGANIC-ACIDURIA, DECREASED RENAL AMMONIA PRODUCTION, HYDROPHTHALMOS, AND MENTAL RETARDATION<subtitle>A Clinical Entity</subtitle>

Charles U. Lowe · Archives of Pediatrics and Adolescent Medicine · 1952 · 394 citations

Medicine, Nephrology, Pediatrics +12

A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases

R. W. B. Ellis, S. Van Creveld · Archives of Disease in Childhood · 1940 · 345 citations · Full text

Medicine, Pediatrics, Genodermatoses +6

Treasury of Human Inheritance.

Amy Barrington, Julia. Bell, William Bulloch et al. · Journal of the American Medical Association · 1912 · 245 citations

Medicine, Dermatology, Otolaryngology +6

Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree.

C H Alstrom, Bo Hallgren, L. B. Nilsson et al. · PubMed · 1959 · 226 citations

Medicine, Endocrinology, Genetics +17

FOUR CASES OF “RETINITIS PIGMEN‐TOSA'” OCCURRING IN THE SAME FAMILY, AND ACCOMPANIED BY GENERAL IMPERFECTIONS OF DEVELOPMENT.

J Laurence, Robert C. Moon · Obesity Research · 1995 · 153 citations

Life Sciences, Genetics, Pediatrics +4