Ellis-van Creveld syndrome novel pathogenic variant in the EVC2 gene a patient from Turkey.
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ABSTRACT:
SUBMITTER: Ozturk O
PROVIDER: S-EPMC8077313 | biostudies-literature | 2021 Apr
REPOSITORIES: biostudies-literature
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Ellis-van Creveld syndrome novel pathogenic variant in the <i>EVC2</i> gene a patient from Turkey.
Öztürk Özden Ö Bağış Haydar H Bolu Semih S Çevik Muhammer Özgür MÖ
Clinical case reports 20210214 4
Ellis-van Creveld syndrome 10-year-old Turkish girl and her parents were first degree cousins. A novel pathogenic variant (p.Glu1178Glyfs*82) was detected in the <i>EVC2</i> gene in patient. She had no peg-shaped teeth, multiple frenula, and limb shortness. ...[more]
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