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

AuthorsH Vassal, A Medeira, I Cordeiro, H G Santos, S Castedo, C Saraiva, P M da Silva, C Monteiro
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 99 Issue 4 Pg. 331-4 (Apr 01 2001) ISSN: 0148-7299 [Print] United States
PMID11252003 (Publication Type: Case Reports, Letter)
Chemical References
  • ARSL protein, human
  • Arylsulfatases
Topics
  • Abnormalities, Multiple (enzymology, genetics)
  • Arylsulfatases (deficiency, genetics)
  • Child
  • Chromosome Deletion
  • Developmental Disabilities (enzymology, genetics)
  • Family Health
  • Growth Disorders (enzymology, genetics)
  • Humans
  • Ichthyosis (enzymology, genetics)
  • Intellectual Disability (enzymology, genetics)
  • Male
  • Osteochondrodysplasias (diagnostic imaging, enzymology, genetics)
  • Radiography
  • Syndrome
  • X Chromosome (genetics)

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