Terminal deletion of Xp22.3 associated with contiguous gene syndrome: Léri-Weill dyschondrosteosis, developmental delay, and ichthyosis

Am J Med Genet. 2001 Apr 1;99(4):331-4. doi: 10.1002/1096-8628(20010401)99:4<331::aid-ajmg1175>3.0.co;2-w.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / enzymology
  • Abnormalities, Multiple / genetics*
  • Arylsulfatases / deficiency
  • Arylsulfatases / genetics
  • Child
  • Chromosome Deletion*
  • Developmental Disabilities / enzymology
  • Developmental Disabilities / genetics
  • Family Health
  • Growth Disorders / enzymology
  • Growth Disorders / genetics
  • Humans
  • Ichthyosis / enzymology
  • Ichthyosis / genetics
  • Intellectual Disability / enzymology
  • Intellectual Disability / genetics
  • Male
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / enzymology
  • Osteochondrodysplasias / genetics
  • Radiography
  • Syndrome
  • X Chromosome / genetics*

Substances

  • ARSL protein, human
  • Arylsulfatases