학술논문
Postnatal remission of ocular, auditory, and somatic findings in Stickler syndrome.
Document Type
Case Study
Author
Source
Subject
*STICKLER syndrome
*INFANT diseases
*DYSPLASIA
*GENETIC disorders
*MEDICAL genetics
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Language
ISSN
1328-8067
Abstract
Presents a case study of an infant who developed Stickler syndrome, a dominantly inherited skeletal dysplasia characterized by ocular, auditory and somatic symptoms. Medical history of the infant; Genetic aspects of Stickler syndrome; Clinical manifestations of Stickler syndrome.