Congenital abnormalities reported in Pelger-Huet homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes

JC Oosterwijk*, S Mansour, G van Noort, HR Waterham, CM Hall, RCM Hennekam

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)937-941
Number of pages5
JournalJOURNAL OF MEDICAL GENETICS
Volume40
Issue number12
Publication statusPublished - Dec-2003

Keywords

  • HYDROPS-ECTOPIC CALCIFICATION
  • EATEN SKELETAL DYSPLASIA
  • B RECEPTOR GENE
  • MUTATIONS
  • DIAGNOSIS
  • FORM

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