Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome
Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome
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Publisher
England: John Wiley & Sons, Inc
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Language
English
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Publisher
England: John Wiley & Sons, Inc
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Contents
Meckel syndrome (MKS) is a pre‐ or perinatal multisystemic ciliopathic lethal disorder with an autosomal recessive mode of inheritance. Meckel syndrome is usually manifested with meningo‐occipital encephalocele, polycystic kidney dysplasia, postaxial polydactyly and hepatobiliary ductal plate malformation. Germline variants in CEP290 cause MKS4. In...
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Full title
Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6991682
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6991682
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ISSN
1582-1838
E-ISSN
1582-4934
DOI
10.1111/jcmm.14887
