Gene/Protein
Disease
Symptom
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Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
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Target Concepts:
Gene/Protein
Disease
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Query: UNIPROT:Q8IXL6 (
RNS
)
1,091
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We report on a case of Raine syndrome with a mutation in
FAM20C
and typical phenotypic features consisting of midface hypoplasia, hypoplastic nose, choanal atresia, wide fontanelle, exophthalmos, generalized osteosclerosis and intracranial calcification. New features in our patient are cerebellar hypoplasia and
pachygyria
. We review the literature and conclude that the triad of hypoplastic nose, exophthalmos and generalized osteosclerosis and/or intracranial calcification is consistent in all molecularly confirmed cases.
...
PMID:Report of a case of Raine syndrome and literature review. 2597 38
