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

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 journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	937-941
Number of pages	5
Journal	Journal of Medical Genetics
Volume	40
Issue number	12
Publication status	Published - Dec-2003

Keywords

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

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Cite this

@article{d62c3af6222c427893a3d4eed72da2de,

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

keywords = "HYDROPS-ECTOPIC CALCIFICATION, EATEN SKELETAL DYSPLASIA, B RECEPTOR GENE, MUTATIONS, DIAGNOSIS, FORM",

author = "JC Oosterwijk and S Mansour and {van Noort}, G and HR Waterham and CM Hall and RCM Hennekam",

year = "2003",

month = dec,

language = "English",

volume = "40",

pages = "937--941",

journal = "Journal of Medical Genetics",

issn = "1468-6244",

publisher = "BMJ Publishing Group",

number = "12",

}

TY - JOUR

T1 - Congenital abnormalities reported in Pelger-Huet homozygosity as compared to Greenberg/HEM dysplasia

T2 - highly variable expression of allelic phenotypes

AU - Oosterwijk, JC

AU - Mansour, S

AU - van Noort, G

AU - Waterham, HR

AU - Hall, CM

AU - Hennekam, RCM

PY - 2003/12

Y1 - 2003/12

KW - HYDROPS-ECTOPIC CALCIFICATION

KW - EATEN SKELETAL DYSPLASIA

KW - B RECEPTOR GENE

KW - MUTATIONS

KW - DIAGNOSIS

KW - FORM

M3 - Article

SN - 1468-6244

VL - 40

SP - 937

EP - 941

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 12

ER -