Whole‐exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy
Whole‐exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy
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United States: John Wiley & Sons, Inc
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English
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Publisher
United States: John Wiley & Sons, Inc
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Background
Skeletal ciliopathies are a group of clinically and genetically heterogeneous disorders with the spectrum of severity spanning from relatively mild to prenatally lethal. The aim of our study was to identify pathogenic mutations in a Chinese family with two siblings presenting a Short‐rib polydactyly syndrome (SRPS)‐like phenotype.
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Full title
Whole‐exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy
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TN_cdi_doaj_primary_oai_doaj_org_article_751e50f4a36543bea2db11051f342921
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_751e50f4a36543bea2db11051f342921
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ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.1524
