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Last Updated: 10/31/2025
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Found 11 publications
Polydactyly-Myopia Syndrome: Genetic and Ophthalmologic Perspectives.
Journal: Cureus
Published: April 02, 2024
Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations.
Journal: Genes
Published: October 17, 2022
Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model.
Journal: Ophthalmic genetics
Published: March 17, 2021
Discontinuous polyostotic fibrous dysplasia with multiple systemic disorders and unique genetic mutations: A case report.
Journal: World journal of clinical cases
Published: August 09, 2020
IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration.
Journal: Investigative ophthalmology & visual science
Published: September 23, 2018
Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.
Journal: JAMA neurology
Published: May 31, 2017
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).
Journal: Human molecular genetics
Published: February 01, 2016
Novel variant syndrome associated with congenital hepatic fibrosis.
Journal: World journal of clinical cases
Published: February 28, 2015
Spontaneous endogenous hypermelatoninemia: a new disease?
Journal: Hormone research in paediatrics
Published: November 18, 2009
Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity.
Journal: Pediatric neurology
Published: November 01, 1992
A postaxial polydactyly and progressive myopia syndrome of autosomal dominant origin.
Journal: Clinical genetics
Published: November 01, 1986
Showing 1-11 of 11
Last Updated: 10/31/2025