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.
2013
Smith-Lemli-Opitz Syndrome; cardiac defects; heterotaxia
01 Pubblicazione su rivista::01b Commento, Erratum, Replica e simili
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]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1343171
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