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Disease: Fine-Lubinsky syndrome

  • A variant of Fine-Lubinsky syndrome: a Japanese boy with profound deafness, cataracts, mental retardation, and brachycephaly without craniosynostosis
  • Fetal manifestation of the Fine-Lubinsky syndrome. Brachycephaly, deafness, cataract, microstomia and mental retardation syndrome complicated by Pierre-Robin anomaly and polyhydramnios
  • Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation
  • Fine-Lubinsky syndrome: managing the rare syndromic synostosis
  • Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritance
  • Further clinical delineation of Fine-Lubinsky syndrome
  • Heart Failure in a Young Adult with a Fine-Lubinsky Syndrome: An Unknown Comorbidity
  • Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky 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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