WebSummary. Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from. WebPubblicato 16/03/2023 - Modificato 16/03/2023 Deficit nella sintesi del colesterolo (Sindrome di Smith-Lemli-Opitz) Progetto INFOINTERSEX Condizioni Intersessuali WebSmith-Lemli-Opitz syndrome (SLOS) is a congenital multiple anomaly/intellectual disability syndrome caused by a deficiency of cholesterol synthesis.
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WebSmith-Lemli-Opitz syndrome (SLOS) is a congenital multiple anomaly/intellectual disability syndrome caused by a deficiency of cholesterol synthesis. WebSmith-Lemli-Opitz syndrome (SLOS) also known as 7-dehydrocholesterol reductase deficiency, is an inborn error of cholesterol synthesis. Epidemiology The. WebSíndrome de Smith-Lemli-Opitz. Definición de la enfermedad El síndrome de Smith-Lemli-Opitz (SLO) se caracteriza por la presencia de anomalías congénitas múltiples,. WebSmith-Lemli-Opitz syndrome is an autosomal recessive syndrome characterized by striking craniofacial features, microcephaly, profound mental retardation, severe failure to thrive,. WebSmith-Lemli-Opitz syndrome (SLOS) is a rare genetic condition affecting multiple body systems. Signs and symptoms may include characteristic facial features, small head. WebSmith-Lemli-Opitz syndrome is an autosomal recessive multiple congenital malformation and mental retardation syndrome. Although historically a clinical. WebRiassunto. La sindrome di Smith-Lemli-Opitz (SLOS) è caratterizzata da difetti congeniti multipli, ritardo mentale e disturbi del comportamento. La SLOS è presente. WebAppello per progetto per di Storia Naturale per le persone con Smith-Lemli-Opitz (SLOS) all'interno del MetabERN, rete di riferimento UE. Chi siamo. Cometa A.S.M.M.E. Gli.
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