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Two New Loci For Autosomal Recessive Ichthyosis On Chromosomes 3P21 And 19P12-Q12 And Evidence For Further Genetic Heterogeneity
(Univ Chicago Press, 2000)
Autosomal recessive ichthyosis (ARI) includes a heterogeneous group of disorders of keratinization characterized by desquamation over the whole body. Two forms largely limited to the skin have been defined: lamellar ...
Vacuoliting Megalencephalic Leukoencephalopathy With Subcortical Cysts, Mapped To Chromosome 22Q(Tel)
(Univ Chicago Press, 2000)
The leukodystrophies form a complex group of orphan genetic disorders that primarily affect myelin, the main constituent of the brain white matter. Among the leukodystrophies of undetermined etiology, a new clinical entity ...