نتایج جستجو برای: x linked recessive
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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...
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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