Intrafamilial variation of the phenotype in Bardet-Biedl syndrome

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Authors

Ruth Riise · Inland Hospital

Sten Andréasson · Western General Hospital

M. Borgström · Western General Hospital

Alan F. Wright · Western General Hospital

Niels Tommerup · Western General Hospital

Thomas Rosenberg · Kennedy Center

Kristina Törnqvist ·

Abstract

Comparison of siblings with the Bardet-Biedl syndrome showed variation of the typical features. In addition, the course of retinal dystrophy varied. No distinctive clinical features were found to separate the BBS4 phenotype from the remaining patients.

Topics & Keywords

Genetic and Kidney Cyst Diseases Genetic Syndromes and Imprinting Hedgehog Signaling Pathway Studies

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: British Journal of Ophthalmology

Volume 81, Issue 5, pp. 378-385

DOI: 10.1136/bjo.81.5.378

Field-Weighted Citation Impact: 1.94