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Volumn 33, Issue 2, 2002, Pages 57-62

"Vanishing white matter" and ovarian dysgenesis in an infant with cerebro-oculo-facio-skeletal phenotype

(5) Boltshauser, E a Barth, P G a Troost, D a Martin, E a Stallmach, T a

a UNIVERSITY CHILDREN S HOSPITAL (Switzerland)

Author keywords

Arthrogryposis; Cerebro Oculo Facial Skeletal Syndrome COFS; Congenital Cataract; Hearing Impairment; Magnetic Resonance Imaging; Ovarian Dysgenesis; Polyneuropathy; White Matter Disease

Indexed keywords

ARTICLE; BRAIN ATROPHY; CASE REPORT; CELL STRUCTURE; CEREBELLUM ATROPHY; CHILD DEVELOPMENT; CLINICAL FEATURE; COFS SYNDROME; CONGENITAL CATARACT; DISEASE ASSOCIATION; DISEASE COURSE; FACE DYSMORPHIA; FEMALE; HUMAN; HUMAN TISSUE; INFANT; INFANT MORTALITY; INTRAUTERINE GROWTH RETARDATION; JOINT CONTRACTURE; LEUKODYSTROPHY; MYELINATION; NERVE CELL; NERVE FIBER; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; OVARY DISEASE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; TREATMENT PLANNING; WHITE MATTER;

ABNORMALITIES, MULTIPLE; BRAIN; DISEASE PROGRESSION; FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; OVARY;

EID: 0036087070 PISSN: 0174304X EISSN: None Source Type: Journal
DOI: 10.1055/s-2002-32363 Document Type: Article

Times cited : (22)

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