Variants
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Acroosteolysis-keloid-like lesions-premature aging syndrome

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Description

Penttinen syndrome is characterized by a prematurely aged appearance involving lipoatrophy and epidermal and dermal atrophy, as well as hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acroosteolysis (Johnston et al., 2015).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

88

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Genes

External Links

  • OMIM

    601812

  • Orphanet

    363665

  • HPO
  • Medgen

    C1866182

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