نتایج جستجو برای: x linked recessive

تعداد نتایج: 848601  

Journal: :Indian Journal of Dermatology, Venereology, and Leprology 2013

Journal: :medical journal of islamic republic of iran 0
sh sajjadi from the ophthalmology department, shahid labbafi nejad medical center, shahid beheshli university of medical sciences, tehran, islamic republic of iran. ma javadi h ahmadieh

anterior megalophthalmos is a developmental anomaly of the anterior ocular segment. this is an x-linked recessive disease and manifests as bilateral enlarged corneas, open iridocorneal angle, hypoplastic iris and dislocation and opacification of an apparently small lens. we have also observed obvious vitreoretinal degeneration in our patients. what may threaten visual acuity later is an open an...

Journal: :Journal of Neurology, Neurosurgery & Psychiatry 1987

Journal: :Journal of neurology, neurosurgery, and psychiatry 2004
D J Nicholl I Sutton M T Dotti S G Supple A Danek M Lawden

Neuroacanthocytosis denotes a group of uncommon heterogenous neurodegenerative disorders associated with acanthocytosis in the absence of any lipid abnormality. A variety of modes of inheritance have been proposed (X linked and autosomal recessive are clearly described, but a recent report of dominantly inherited chorea acanthocytosis appears to be caused by Huntington’s disease-like type 2 exp...

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