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https://hdl.handle.net/11499/5652| Title: | Camptodactyly, myopia, and fibrosis of the medial rectus of the eye in two sibs born to consanguineous parents: Autosomal recessive entity? | Authors: | Kılıç, İlknur Kılıç, B. Alper Ergin, Hacer Aygün, M.G. Akşit, M. Arif |
Keywords: | Camptodactyly Fibrosis of the medial rectus Myopia Ptosis adolescent article autosomal recessive disorder camptodactyly case report consanguinity extraocular muscle female human muscle biopsy myofibrosis myopia priority journal ptosis Abnormalities, Multiple Adolescent Child Consanguinity Contracture Female Fibrosis Fingers Genes, Recessive Humans Male Oculomotor Muscles Syndrome Raphia frater Rectus |
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. | URI: | https://hdl.handle.net/11499/5652 https://doi.org/10.1002/(SICI)1096-8628(19980428)77:1<28 |
ISSN: | 0148-7299 |
| Appears in Collections: | PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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