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Disease: Dysmorphism cleft palate loose skin

  • A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation
  • Cutis laxa in Kabuki make-up syndrome
  • Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin
  • Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?
  • Loeys-Dietz Syndrome
  • Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type
  • New syndrome?: MCA/MR syndrome with multiple circumferential skin creases
  • Review of clinical and molecular variability in autosomal recessive cutis laxa 2A
  • Small intestinal agenesis with multiple abnormalities
  • Syndrome identification case report 101: loose, redundant skin, craniofacial defects, and hypotonia
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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