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Disease: Tetraamelia multiple malformations

  • Association of tetra-amelia, ectodermal dysplasia, hypoplastic lacrimal ducts and sacs opening towards the exterior, peculiar face, and developmental retardation
  • Natural history and postmortem anatomy of a patient with tetra-amelia, ectodermal dysplasia, peculiar face, and developmental retardation (MIM 273390)
  • Recurrent tetraamelia and pulmonary hypoplasia with multiple malformations in sibs
  • Roberts syndrome or "X-linked amelia"?
  • Tetra-amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genes
  • Tetra-amelia and lung hypo/aplasia syndrome: new case report and review
  • Tetra-amelia and splenogonadal fusion in Roberts syndrome
  • Tetra-amelia with lung hypoplasia and facial clefts, Roberts-SC syndrome: report of two cases
  • Tetra-amelia with multiple malformations in six male fetuses of one kindred
  • Tetra-amelia, lung hypo-/aplasia, cleft lip-palate, and heart defect: a new syndrome?
  • Tri-amelia and phocomelia with multiple malformations resembling Roberts syndrome in a fetus: is it a variant or a new syndrome?
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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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