Publication

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

Oosterwijk, JC., Mansour, S., van Noort, G., Waterham, HR., Hall, CM. & Hennekam, RCM., Dec-2003, In : JOURNAL OF MEDICAL GENETICS. 40, 12, p. 937-941 5 p.

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

ID: 4158260