The Sabinas syndrome

R. R. Howell, A. I. Arbisser, D. S. Parsons, C. I. Scott, U. Fraustadt, W. R. Collie, R. N. Marshall, O. C. Ibarra

Research output: Contribution to journalArticlepeer-review

13 Scopus citations

Abstract

The authors defined a new autosomal recessive disorder in patients stemming from a small community in northern Mexico. Diagnosable at birth, its major symptoms include brittle hair, mental retardation, and nail dysplasia. Structural hair abnormalities are seen by both light and electron microscopy. Hair cystine content is reduced while the copper/zinc ratio in hair is increased.

Original languageEnglish (US)
Pages (from-to)957-967
Number of pages11
JournalAmerican journal of human genetics
Volume33
Issue number6
StatePublished - Dec 1 1981
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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