Neurodegeneration with Trichorrhexis Invaginata

J Gordon Millichap

doi:10.15844/pedneurbriefs-7-1-13

Neurodegeneration with Trichorrhexis Invaginata

Pediatric Neurology Briefs

Volume 7 (1993): Issue 1

By: J Gordon Millichap

Open Access

|Jan 1993

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.

References

Gyure KA Kurczynski TW Gunning W French BN Autosomal recessive neurodegenerative disorder with trichorrhexis invaginata and ectodermal dysplasia Pediatr Neurol 1992 Nov-Dec 8 6 469 72 10.1016/0887-8994(92)90012-N 1476579
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DOI: https://doi.org/10.15844/pedneurbriefs-7-1-13 | Journal eISSN: 2166-6482

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Language: English

Page range: 8 - 8

Published on: Jan 1, 1993

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Autosomal Recessive Syndrome,

Progressive Neurological Deterioration,

Neuromotor Deterioration

© 1993 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 7 (1993): Issue 1