Bjornstad Syndrome Latest Advances

Cochlear implantation in Bjornstad syndrome: a case series with literature review.

Journal: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery

Published: July 23, 2023

Alopecia and hearing loss in a boy.

Journal: Pediatric dermatology

Published: December 21, 2021

A novel mutation in the ubiquinol-cytochrome c reductase synthesis-like gene associated with complex III deficiency and Björnstad syndrome: A case report.

Journal: Medicine

Published: October 31, 2020

Ketogenic diet for treating alopecia in BCS1l-related mitochondrial disease (Bjornstad syndrome).

Journal: JIMD reports

Published: December 10, 2019

Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome.

Journal: The Journal of dermatology

Published: January 21, 2017

Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings.

Journal: American journal of medical genetics. Part A

Published: March 31, 2016

A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION.

Journal: Genetic counseling (Geneva, Switzerland)

Published: January 01, 2016

Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.

Journal: Gene

Published: December 18, 2014

A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene.

Journal: The British journal of dermatology

Published: November 19, 2013

Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

Journal: Journal of human genetics

Published: February 28, 2013

A practical, algorithmic approach to diagnosing hair shaft disorders.

Journal: International journal of dermatology

Published: December 25, 2010

Missense mutations in the BCS1L gene in Bjornstad syndrome

Journal: Annales de dermatologie et de venereologie

Published: March 18, 2008

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Cochlear implantation in Bjornstad syndrome: a case series with literature review.

Cochlear implantation in Bjornstad syndrome: a case series with literature review.

Alopecia and hearing loss in a boy.

Alopecia and hearing loss in a boy.

A novel mutation in the ubiquinol-cytochrome c reductase synthesis-like gene associated with complex III deficiency and Björnstad syndrome: A case report.

A novel mutation in the ubiquinol-cytochrome c reductase synthesis-like gene associated with complex III deficiency and Björnstad syndrome: A case report.

Ketogenic diet for treating alopecia in BCS1l-related mitochondrial disease (Bjornstad syndrome).

Ketogenic diet for treating alopecia in BCS1l-related mitochondrial disease (Bjornstad syndrome).

Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome.

Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome.

Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings.

Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings.

A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION.

A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION.

Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.

Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.

A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene.

A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene.

Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

A practical, algorithmic approach to diagnosing hair shaft disorders.

A practical, algorithmic approach to diagnosing hair shaft disorders.

Missense mutations in the BCS1L gene in Bjornstad syndrome

Missense mutations in the BCS1L gene in Bjornstad syndrome