Published 1993 | Version v1.0.0
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Neurodegeneration with Trichorrhexis Invaginata

Abstract

Two siblings are reported from the Medical College of Ohio with an autosomal recessive syndrome characterized by hair and skin abnormalities, hypoplastic nails, hypotonia, areflexia, and progressive neurological deterioration.

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PNB-7-08

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Created
1993
When the item was originally created.