Expanding theMYBPC1phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita-Reference-Cited by-同舟云学术

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Expanding theMYBPC1phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita

Published:2016-01-20 Issue:1 Volume:90 Page:84-89
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Ekhilevitch N.¹,Kurolap A.¹,Oz-Levi D.¹,Mory A.¹,Hershkovitz T.¹,Ast G.²,Mandel H.³⁴,Baris H.N.¹⁴

Affiliation:

1. The Genetics Institute; Rambam Health Care Campus; Haifa Israel

2. Department of Human Molecular Genetics and Biochemistry; Sackler Faculty of Medicine, Tel-Aviv University; Tel-Aviv Israel

3. Metabolic Unit; Rambam Health Care Campus; Haifa Israel

4. Rappaport School of Medicine; Technion - Israel Institute of Technology; Haifa Israel

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference25 articles.

1. Arthrogryposis and fetal hypomobility syndrome;Haliloglu;Handb Clin Neurol,2013

2. Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles;Hall;Eur J Med Genet,2014

3. Arthrogryposis: a review and update;Bamshad;J Bone Joint Surg Am,2009

4. Fast and accurate short read alignment with Burrows-Wheeler transform;Li;Bioinformatics,2009

5. A framework for variation discovery and genotyping using next-generation DNA sequencing data;DePristo;Nat Genet,2011

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1. Compound heterozygous variants in MYBPC1 lead to severe distal arthrogryposis type-1 manifestations;Gene;2024-06

2. Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene;Neurology Clinical Practice;2024-06

3. TTN as a candidate gene for distal arthrogryposis type 10 pathogenesis;Journal of Genetic Engineering and Biotechnology;2022-08-11

4. Sarcomeric deficits underlie MYBPC1-associated myopathy with myogenic tremor;JCI Insight;2021-10-08

5. Models of Distal Arthrogryposis and Lethal Congenital Contracture Syndrome;Genes;2021-06-20

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