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Disease: Brachydactyly anonychia

  • A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia
  • A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges
  • A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects
  • Anonychia with absent phalanges and brachydactyly: A report of two unrelated cases
  • Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly
  • Brachydactyly with anonychia
  • Brachydactyly-anonychia with congenital absent phalanges of the hand
  • Brachydactyly, anonychia and a deformed nasal tip in a 16-year-old girl: a case report
  • Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature
  • Congenital brachydactyly and nail hypoplasia: clue to bone-dependent nail formation
  • Cooks syndrome: a case report and brief review
  • Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia
  • Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication
  • RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly
  • Santos syndrome is caused by mutation in the WNT7A gene
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