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  1. Home
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  3. Research By Disease

Disease: Cleft lip palate abnormal thumbs microcephaly

  • "Newer" facial clefting syndromes
  • A case of the orocraniodigital (Juberg-Hayward) syndrome
  • A new familial syndrome of oral, cranial, and digital anomalies
  • A new syndrome with cardiac malformation, cleft lip-palate, microcephaly and digital anomalies?
  • A novel chromosomal aberration in a child with suspected Juberg-Hayward syndrome
  • Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome
  • Familial t(4;13) with abnormal offspring in three generations
  • Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2
  • Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2
  • Juberg-Hayward syndrome: report of a new patient with severe phenotype and novel clinical features
  • Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome
  • Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter
  • Prenatal diagnosis of Juberg-Hayward syndrome
  • Uncommon oral cleft in Wolf-Hirschhorn syndrome
  • Unknown syndrome: microcephaly, facial clefting, and preaxial polydactyly
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