Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1-Reference-Cited by-同舟云学术

Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1

Published:2014-04-29 Issue:7 Volume:164 Page:1846-1849
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Barnett Christopher P.¹,Todd Emily J.²³,Ong Royston²³,Davis Mark R.⁴,Atkinson Vanessa⁴,Allcock Richard⁵⁶,Laing Nigel²³⁴,Ravenscroft Gianina²³

Affiliation:

1. Pediatric & Reproductive Genetics, SA Clinical Genetics Service; Women's and Children's Hospital/SA Pathology; North Adelaide South Australia Australia

2. Western Australian Institute for Medical Research; Nedlands Western Australia Australia

3. Centre for Medical Research; University of Western Australia; Nedlands Western Australia Australia

4. Department of Diagnostic Genomics; PathWest Laboratory Medicine WA; Nedlands Western Australia Australia

5. Lotterywest State Biomedical Facility Genomics; School of Pathology and Laboratory Medicine; University of Western Australia; Nedlands Western Australia Australia

6. Department of Clinical Immunology, Pathwest Laboratory Medicine WA; Royal Perth Hospital; Perth Western Australia Australia

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36342/fullpdf

Reference13 articles.

1. The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis;Dieterich;Hum Mol Genet,2013

2. Mutations in ECEL1 cause distal arthrogryposis type 5D;McMillin;Am J Hum Genet,2013

3. Damage-induced neuronal endopeptidase is critical for presynaptic formation of neuromuscular junctions;Nagata;J Neurosci,2010

4. Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations;Ravenscroft;Neuromuscul Disord,2013

5. Neonatal lethality in mice deficient in XCE, a novel member of the endothelin-converting enzyme and neutral endopeptidase family;Schweizer;J Biol Chem,1999

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