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Camptodactyly, myopia, and fibrosis of the medial rectus of the eye in two sibs born to consanguineous parents: Autosomal recessive entity?

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dc.contributor.author Kilic, I.
dc.contributor.author Kilic, B.A.
dc.contributor.author Ergin, H.
dc.contributor.author Aygün, M.G.
dc.contributor.author Aksit, M.A.
dc.date.accessioned 2019-08-16T11:51:29Z
dc.date.available 2019-08-16T11:51:29Z
dc.date.issued 1998
dc.identifier.issn 01487299 (ISSN)
dc.identifier.uri http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/5652
dc.description.abstract Unaffected but consanguineous parents suggest autosomal recessive inheritance of a previously apparently undescribed syndrome of camptodactyly, fibrosis of the medial rectuse muscle of the eye, severe myopia, facial anomalies, joint contractures, and mild scoliosis in 13-year-old Turkish girl and her 11-year-old brother. The girl also had ptosis.
dc.language.iso English
dc.relation.isversionof 10.1002/(SICI)1096-8628(19980428)77:1<28::AID-AJMG7>3.0.CO;2-H
dc.subject Camptodactyly
dc.subject Fibrosis of the medial rectus
dc.subject Myopia
dc.subject Ptosis
dc.subject adolescent
dc.subject article
dc.subject autosomal recessive disorder
dc.subject camptodactyly
dc.subject case report
dc.subject consanguinity
dc.subject extraocular muscle
dc.subject female
dc.subject human
dc.subject muscle biopsy
dc.subject myofibrosis
dc.subject myopia
dc.subject priority journal
dc.subject ptosis
dc.subject Abnormalities, Multiple
dc.subject Adolescent
dc.subject Child
dc.subject Consanguinity
dc.subject Contracture
dc.subject Female
dc.subject Fibrosis
dc.subject Fingers
dc.subject Genes, Recessive
dc.subject Humans
dc.subject Male
dc.subject Oculomotor Muscles
dc.subject Syndrome
dc.subject Raphia frater
dc.subject Rectus
dc.title Camptodactyly, myopia, and fibrosis of the medial rectus of the eye in two sibs born to consanguineous parents: Autosomal recessive entity?
dc.type Article
dc.relation.journal American Journal of Medical Genetics
dc.identifier.volume 77
dc.identifier.issue 1
dc.identifier.startpage 28
dc.identifier.endpage 30
dc.identifier.index Scopus


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