Associated Papers
Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants.
Lord J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case report.
Hu M et al.
Bmc Pediatrics, 2024
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
Best S et al.
Journal of Medical Genetics, 2022
Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients.
Zhang Q et al.
Frontiers in Genetics, 2022
A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants.
Shurygina MF et al.
Bmc Ophthalmology, 2019
Alström Syndrome: Mutation Spectrum of ALMS1.
Marshall JD et al.
Human Mutation, 2015
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
Ozantürk A et al.
Journal of Human Genetics, 2015
Novel ALMS1 mutations in Chinese patients with Alström syndrome.
Liang X et al.
Molecular Vision, 2013
The molecular basis of human retinal and vitreoretinal diseases.
Berger W et al.
Progress in Retinal and Eye Research, 2010
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