{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T15:57:04Z","timestamp":1792166224039,"version":"4.4.0"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,2,9]],"date-time":"2020-02-09T00:00:00Z","timestamp":1581206400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Inherited ichthyoses are a heterogeneous group of rare disorders related to over 40 genes. To identify underlying molecular causes in inherited ichthyosis among Chinese and to correlate genotype and phenotype, 35 probands clinically diagnosed inherited ichthyosis, except ichthyosis vulgaris and X\u2010linked ichthyosis, were included in our study. Molecular analysis was performed using next\u2010generation sequencing (NGS) through multi\u2010gene panel testing targeting all ichthyosis\u2010related genes. Genetic variants causative for the ichthyosis were identified in 32 of 35 investigated patients. In all, 43 causative mutations across 12 genes were disclosed, including 16 novel variants. Thirteen keratinopathic ichthyosis, fourteen autosomal recessive congenital ichthyosis (ARCI) including one caused by mutations in <jats:italic>SDR9C7<\/jats:italic>, and five syndromic ichthyoses were confirmed. Four probands, with presumptive ARCI, turned out to be keratinopathic ichthyosis (2), neutral lipid storage disease (1), and Sjogren\u2010Larsson syndrome (1), respectively. Next\u2010generation technology has been demonstrated to be an effective tool in diagnosing inherited ichthyosis constituting a diverse group of cornification disorders. Our study further expands mutation spectrum and clinical phenotype associated with inherited ichthyosis in Chinese.<\/jats:p>","DOI":"10.1111\/cge.13704","type":"journal-article","created":{"date-parts":[[2020,1,18]],"date-time":"2020-01-18T07:38:17Z","timestamp":1579333097000},"page":"770-778","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Next\u2010generation sequencing through multi\u2010gene panel testing for diagnosis of hereditary ichthyosis in Chinese"],"prefix":"10.1111","volume":"97","author":[{"given":"Ruhong","family":"Cheng","sequence":"first","affiliation":[{"name":"Department of Dermatology Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Institute of Dermatology Shanghai Jiao Tong University School of Medicine  Shanghai 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