SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT

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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Bibliographic Details
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)
Format: Book
Published: Amaltea Medical Publishing House, 2015-03-01T00:00:00Z.
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3rd Floor Main Library

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