A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype-Reference-Cited by-同舟云学术

A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype

Published:2017-12 Issue: Volume:13 Page:14-17
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Bonati Maria Teresa,Verde Federico,Hladnik Uros^ORCID,Cattelan Paola,Campana Luca,Castronovo Chiara,Ticozzi Nicola,Maderna Luca,Colombrita Claudia,Papa Sergio,Banfi Paolo^ORCID,Silani Vincenzo

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

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3. Menkes disease;Tümer;Eur. J. Hum. Genet.,2010

4. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus;Kaler;Nat. Genet.,1994

5. Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse;Das;Am. J. Hum. Genet.,1995

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1. Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron ofATP7Aas a novel cause of occipital horn syndrome;Journal of Medical Genetics;2024-07-02

2. Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease;Frontiers in Genetics;2022-03-31

3. Orthopaedic interventions in occipital horn syndrome: a rare case of mutation in ATP7A gene;Egyptian Journal of Medical Human Genetics;2022-02-23

4. Copper Toxicity Associated With an ATP7A-Related Complex Phenotype;Pediatric Neurology;2021-06

5. Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease;Genes;2021-05-14