Friable hair, urea cycle dysfunction, and trichothiodystrophy. A new X-linked genodermatosis.
D000596:Amino Acids / Q000097:blood / Q000652:urine; D001706:Biopsy; D008040:Genetic Linkage; D006201:Hair Diseases / Q000150:complications*; D006801:Humans; D007223:Infant; D008297:Male; D008659:Metabolic Diseases / Q000150:complications*; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000235:genetics* / Q000473:pathology; D014508:Urea / Q000378:metabolism*; D014960:X Chromosome
D000596:Amino Acids; D014508:Urea