Associated Papers
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.
Čunátová K et al.
Journal of Inherited Metabolic Disease, 2024
Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient.
Al Qurashi M et al.
Bmc Medical Genomics, 2022
BCS1L mutations produce Fanconi syndrome with developmental disability.
Kanako KI et al.
Journal of Human Genetics, 2022
Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome.
Shigematsu Y et al.
The Journal of Dermatology, 2017
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings.
Falco M et al.
American Journal of Medical Genetics. Part A, 2017
A Turkish BCS1L mutation causes GRACILE-like disorder.
Serdaroğlu E et al.
The Turkish Journal of Pediatrics, 2016
Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.
Zhang J et al.
Gene, 2015
Nuclear gene mutations as the cause of mitochondrial complex III deficiency.
Fernández-Vizarra E et al.
Frontiers in Genetics, 2015
A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene.
Yanagishita T et al.
The British Journal of Dermatology, 2014
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
Siddiqi S et al.
Journal of Human Genetics, 2013
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
Hinson JT et al.
The New England Journal of Medicine, 2007
[Complex III deficiency due to mutations in the cytochrome b gene].
Ishii A et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002
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