<scp>Ehlers‐Danlos</scp> /myopathy overlap syndrome caused by a large de novo deletion in <scp> <i>COL12A1</i> </scp>-Reference-Cited by-同舟云学术

Ehlers‐Danlos /myopathy overlap syndrome caused by a large de novo deletion in COL12A1

Published:2022-01-12 Issue:5 Volume:188 Page:1556-1561
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Coppens Sandra¹^ORCID,Desmyter Laurence¹,Koch Manuel²,Özcelik Semra²,O'Heir Emily³,Van Bogaert Patrick⁴,Vilain Catheline¹,Christiaens Florence⁵

Affiliation:

1. ULB Center of Human Genetics Hôpital Erasme Brussels Belgium

2. Institute for Dental Research and Oral Musculoskeletal Biology and Center for Biochemistry Faculty of Medicine and University Hospital Cologne, University of Cologne Köln Germany

3. Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard Cambridge Massachusetts USA

4. Department of Pediatry, CHU Angers Angers France

5. Department of Pediatric Neurology Hôpital Erasme Brussels Belgium

Funder

Deutsche Forschungsgemeinschaft

Fonds Erasme

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62653

Reference20 articles.

1. Babadi M Lee SK &Smirnov AN.GATK gCNV: Reliable discovery of copy number variation from whole‐exome and whole‐genome sequencing. Poster presentation at PROBPROG 2018 October 04–06 2018 Cambridge MA USA.

2. Glycine Substitutions in Collagen Heterotrimers Alter Triple Helical Assembly

3. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

4. Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers–Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

5. Complete Primary Structure of Two Splice Variants of Collagen XII, and Assignment of α1(XII) Collagen (COL12A1), α1(IX) Collagen (COL9A1), and α1(XIX) Collagen (COL19A1) to Human Chromosome 6q12–q13

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1. The coordinated activities of collagen VI and XII in maintenance of tissue structure, function and repair: evidence for a physical interaction;Frontiers in Molecular Biosciences;2024-03-28

2. <i>COL12A1</i> Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy;Molecular Syndromology;2024

3. Homozygous splice site variant affecting the first von Willebrand factor A domain of COL12A1 in a patient with myopathic Ehlers‐Danlos syndrome;American Journal of Medical Genetics Part A;2023-06-23

4. Collagen XII mediated cellular and extracellular mechanisms in development, regeneration, and disease;Frontiers in Cell and Developmental Biology;2023-03-02