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Smith–Lemli–Opitz syndrome presenting as acute adrenal crisis in a child: a case report

BACKGROUND: Smith–Lemli–Opitz syndrome is a rare autosomal recessive disorder of cholesterol biosynthesis which is characterized by multiple congenital malformations and global developmental delay. Here we report the case of a 3-year-old, previously undiagnosed, child with Smith–Lemli–Opitz syndrome...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:J Med Case Rep
मुख्य लेखकों: Jayamanne, Chamara, Sandamal, Sajith, Jayasundara, Kasun, Saranavabavananthan, Mayoorathy, Mettananda, Sachith
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BioMed Central 2018
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC6085650/
https://ncbi.nlm.nih.gov/pubmed/30092813
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-018-1738-4
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