LEOPARD syndrome with PTPN11 gene mutation in monozygotic twins: A case description and literature r...
LEOPARD syndrome with PTPN11 gene mutation in monozygotic twins: A case description and literature review
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Author / Creator
Zhou, Yingwen , Yang, Kai , Ma, Kai and Lu, Minjie
Publisher
England: John Wiley & Sons, Inc
Journal title
Language
English
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Publisher
England: John Wiley & Sons, Inc
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Contents
CMR showed diffuse cardiac hypertrophy, with the basal segment of the septum being the thickest at about 27–28 mm (Figure 1I), left and right ventricular outflow tract obstruction (Figure 1J), high-speed blood flow (Figure 1K), and a visible ‘SAM’ sign on the mitral valve. [...]genetic testing revealed a mutation in the PTPN11 gene [chr12:112910827...
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Full title
LEOPARD syndrome with PTPN11 gene mutation in monozygotic twins: A case description and literature review
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TN_cdi_doaj_primary_oai_doaj_org_article_1a3a83b3f4b44d60b01c8452ccd222c4
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1a3a83b3f4b44d60b01c8452ccd222c4
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ISSN
2055-5822
E-ISSN
2055-5822
DOI
10.1002/ehf2.15014
