نتایج جستجو برای: myofibroma

تعداد نتایج: 121  

Journal: :American journal of human genetics 2016
Stephen R F Twigg Robert B Hufnagel Kerry A Miller Yan Zhou Simon J McGowan John Taylor Jude Craft Jenny C Taylor Stephanie L Santoro Taosheng Huang Robert J Hopkin Angela F Brady Jill Clayton-Smith Carol L Clericuzio Dorothy K Grange Leopold Groesser Christian Hafner Denise Horn I Karen Temple William B Dobyns Cynthia J Curry Marilyn C Jones Andrew O M Wilkie

Curry-Jones syndrome (CJS) is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas. Cerebellar medulloblastoma has been described in a single affected individual; in another, biopsy of skin lesions showed features of trich...

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