Gene/Protein
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Pivot Concepts:
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Target Concepts:
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Query: UMLS:C0029089 (
ophthalmoplegia
)
3,338
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Aarskog syndrome (
faciogenital dysplasia
) is a genetic growth disorder characterized by short stature, cryptorchidism, shawl scrotum, and dysmorphic facial features. Ophthalmic findings include hypertelorism, blepharoptosis, strabismus, and
ophthalmoplegia
. The authors report a patient with Aarskog syndrome and bilateral retinal vessel tortuosity. This is the first retinal anomaly associated with Aarskog syndrome.
...
PMID:Tortuosity of the retinal vessels in Aarskog syndrome (faciogenital dysplasia). 795 51
