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Revista Romana de PEDIATRIE | Volumul LXIV, Nr. 1, An 2015
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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SINDROMUL SMITH-LEMLI-OPITZ. PREZENTARE DE CAZ

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REZUMAT

Sindromul Smith-Lemli-Opitz (SSLO) reprezintă o afecţiune cu transmitere autozomal-recesivă caracterizată prin multiple anomalii şi care se datorează anomaliilor în sinteza colesterolului. Autorii prezintă particularităţile diagnostice şi terapeutice la un sugar cu ambiguitate genitală.

Cuvinte cheie: sindromul Smith-Lemli-Opitz, sugar, hipocolesterolemie

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