A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese...
A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient
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England: Nature Publishing Group
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English
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England: Nature Publishing Group
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Heterotaxy syndrome is a very rare congenital disease, which is caused by the disorder of left-right asymmetry during visceral development. However, pathogenic genetic lesions are found in less than 20% of HS patients. In this cohort study, whole-exome sequencing was performed for 110 patients with situs inversus or situs ambiguous. We identified a...
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A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient
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TN_cdi_proquest_miscellaneous_2675984185
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2675984185
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-022-01053-w
