Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease (Q24302215)

central nervous system development

GOA release 2020-03-11

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GOA release 2020-03-11

mitochondrion

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based on heuristic

inferred from title

mitochondrial disease

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Alessia Indrieri

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Ivan Conte

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Vanessa Alexandra van Rahden

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Roberta Tammaro

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Ilaria D'Amato

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Isabelle Maystadt

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Stephanie Demuth

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Alex Zvulunov

American Journal of Human Genetics

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language of work or name

English

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publication date

2 November 2012

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published in

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volume

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issue

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page(s)

942-9

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cites work

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome

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Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS)

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27 September 2017

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27 September 2017

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Fourteen-month-old girl with facial skin thinning

30 May 2018

1 reference

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Novel insights into the assembly and function of human nuclear-encoded cytochromecoxidase subunits 4, 5a, 6a, 7a and 7b

29 November 2018

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Compensatory growth of healthy cardiac cells in the presence of diseased cells restores tissue homeostasis during heart development

29 November 2018

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Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487127

Another observation of microphthalmia in an XX male: microphthalmia with linear skin defects syndrome without linear skin lesions

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487127

Quantification of muscle mitochondrial oxidative phosphorylation enzymes via histochemical staining of blue native polyacrylamide gels

29 November 2018

1 reference

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Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487127

29 November 2018

Mitochondrial diseases

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23122588

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2012.09.016

1 reference

1 reference

1 reference

PubMed publication ID

23122588

1 reference