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Related Experiment Videos

Heterogeneity in adducted thumbs sequence

M Moldavsky1, T Lerman-Sagie, M Kutai

  • 1Abarbanel Mental Health Center, Bat-Yam, Israel.

American Journal of Medical Genetics
|May 16, 1997
PubMed
Summary
This summary is machine-generated.

This study details a boy with adducted thumbs, microcephaly, and severe intellectual disability, highlighting a central nervous system developmental defect. Mitochondrial function tests were normal despite muscle biopsy findings.

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Area of Science:

  • Neurology
  • Genetics
  • Developmental Biology

Background:

  • Adducted thumbs sequence is a rare congenital condition.
  • It is often associated with central nervous system abnormalities.
  • This case presents unique features without typical syndromic markers.