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Young-Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticolis.

AuthorsT Kondoh, E Kinoshita, H Moriuchi, N Niikawa, T Matsumoto, M Masuno
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 90 Issue 1 Pg. 85-6 (Jan 03 2000) ISSN: 0148-7299 [Print] United States
PMID10602125 (Publication Type: Case Reports, Letter)
Topics
  • Abnormalities, Multiple (genetics, physiopathology)
  • Child
  • Child Development
  • Congenital Hypothyroidism
  • Cryptorchidism (genetics, physiopathology)
  • Facies
  • Humans
  • Hypothyroidism (genetics, physiopathology)
  • Intellectual Disability (genetics, physiopathology)
  • Macular Degeneration (genetics, physiopathology)
  • Male
  • Syndrome

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