Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia

J Med Genet. 2004 May;41(5):e54. doi: 10.1136/jmg.2003.010587.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 7*
  • Deafness / genetics*
  • Ear, Inner / abnormalities
  • Foot Deformities, Congenital / diagnosis
  • Foot Deformities, Congenital / genetics*
  • Foot Deformities, Congenital / pathology
  • Genotype
  • Hand Deformities, Congenital / diagnosis
  • Hand Deformities, Congenital / genetics*
  • Hand Deformities, Congenital / pathology
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Male
  • Microsatellite Repeats

Associated data

  • OMIM/183600
  • OMIM/605617