SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal-recessive inherited disease characterized by multiple anomalies secondary to cholesterol synthesis impairment. The authors present diagnosis peculiarities and limitation of treatment options in a 5-weeks old infant with ambiguous genitalia.
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Main Authors: | Sorin Ioan Iurian (Author), Livia Ognean (Author), Han Brunner (Author), Leo Kluijtmans (Author), Petr Jira (Author), Dana Fintina (Author), Bogdan Ionut Mehedintu (Author) |
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Format: | Book |
Published: |
Amaltea Medical Publishing House,
2015-03-01T00:00:00Z.
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Online Access: | Connect to this object online. |
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