|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
2
|
|
pubmed:dateCreated |
2001-4-12
|
|
pubmed:abstractText |
Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal-recessive disorder that includes microcephaly, severe mental retardation, and multiple congenital anomalies. Otologic findings are usually limited to descriptions of the auricles.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Mar
|
|
pubmed:issn |
1531-7129
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
22
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
170-7
|
|
pubmed:dateRevised |
2011-11-17
|
|
pubmed:meshHeading |
pubmed-meshheading:11300264-Abnormalities, Multiple,
pubmed-meshheading:11300264-Adolescent,
pubmed-meshheading:11300264-Axons,
pubmed-meshheading:11300264-Bone Diseases,
pubmed-meshheading:11300264-Child,
pubmed-meshheading:11300264-Cochlear Nerve,
pubmed-meshheading:11300264-Eye Diseases,
pubmed-meshheading:11300264-Face,
pubmed-meshheading:11300264-Female,
pubmed-meshheading:11300264-Hearing Loss, Sensorineural,
pubmed-meshheading:11300264-Humans,
pubmed-meshheading:11300264-Intellectual Disability,
pubmed-meshheading:11300264-Male,
pubmed-meshheading:11300264-Microcephaly,
pubmed-meshheading:11300264-Nerve Degeneration,
pubmed-meshheading:11300264-Nerve Fibers, Myelinated,
pubmed-meshheading:11300264-Spiral Ganglion,
pubmed-meshheading:11300264-Syndrome
|
|
pubmed:year |
2001
|
|
pubmed:articleTitle |
Cerebro-oculo-facio-skeletal syndrome as a human example for accelerated cochlear nerve degeneration.
|
|
pubmed:affiliation |
Department of Otolaryngology, University of Innsbruck, Austria.
|
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
