Smith–Lemli–Opitz syndrome presents cardiac defects similar to that observed in heterotaxia with spleen anomalies. Recent experimental studies on mice showed the Hedgehog signaling involved in Smith–Lemli–Opitz syndrome. This genetic pathway is also implicated in the pathogenesis of L–R axis specification and heterotaxia.
Smith-Lemli-Opitz syndrome, cardiac defects, and spleen anomalies / Putotto, C.; Unolt, M.; Marino, D.. - In: EUROPEAN JOURNAL OF MEDICAL GENETICS. - ISSN 1769-7212. - 56:2(2013), pp. 123-123. [10.1016/j.ejmg.2012.09.008]
Smith-Lemli-Opitz syndrome, cardiac defects, and spleen anomalies
Putotto C.
;Unolt M.;
2013
Abstract
Smith–Lemli–Opitz syndrome presents cardiac defects similar to that observed in heterotaxia with spleen anomalies. Recent experimental studies on mice showed the Hedgehog signaling involved in Smith–Lemli–Opitz syndrome. This genetic pathway is also implicated in the pathogenesis of L–R axis specification and heterotaxia.File allegati a questo prodotto
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