The Sabinas syndrome.
We have 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.
D000293:Adolescent; D000328:Adult; D000596:Amino Acids / Q000032:analysis; D003300:Copper / Q000032:analysis; D003553:Cystine / Q000032:analysis; D005260:Female; D005808:Genes, Recessive; D006197:Hair / Q000032:analysis; D006201:Hair Diseases / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008800:Mexico; D008854:Microscopy, Electron; D009264:Nails, Malformed / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D015032:Zinc / Q000032:analysis
D000596:Amino Acids; D003553:Cystine; D003300:Copper; D015032:Zinc