{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T02:59:29Z","timestamp":1790996369278,"version":"4.1.0"},"reference-count":22,"publisher":"Walter de Gruyter GmbH","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,1,26]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background:<\/jats:title><jats:p>Congenital cataract is one of the major causes of blindness and amblyopia in children. About one-third of the cases are inherited.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation:<\/jats:title><jats:p>We applied whole exome sequencing for a pediatric patient with congenital cataract, small penis, baldness and absence of eyebrows and detected a compound heterozygous mutation in the lanosterol synthase (<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>We concluded that the mutations affect the structural stability of the protein to some extent.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2017-0101","type":"journal-article","created":{"date-parts":[[2017,10,10]],"date-time":"2017-10-10T10:01:12Z","timestamp":1507629672000},"source":"Crossref","is-referenced-by-count":33,"title":["Congenital cataract with LSS gene mutations: a new case 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