Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3

Journal of Human Genetics

Volumn 51, Issue 10, 2006, Pages 846-850

  Spiegel, Ronen ^a,b   Ghalamkarpour, Arash ^c   Daniel Spiegel, Etty ^a,b   Vikkula, Miikka ^c   A Shalev, Stavit ^a,b  

^a HAEMEK MEDICAL CENTER   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c DE DUVE INSTITUTE   (Belgium)

Author keywords

Autosomal dominant; Hereditary lymphedema; Missense mutation; Vascular endothelial growth factor receptor 3 gene (VEGFR3)

Indexed keywords

PROTEIN TYROSINE KINASE; VASCULOTROPIN RECEPTOR 3;

ADULT; AGED; ARAB; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE ASSOCIATION; FAMILY; FEMALE; FETUS HYDROPS; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; HYDROTHORAX; ISRAEL; LEG EDEMA; MALE; MILROY DISEASE; MISSENSE MUTATION; MORPHOLOGICAL TRAIT; MOSLEM; NUCLEOTIDE SEQUENCE;

ADOLESCENT; ADULT; AGED; CHILD; FAMILY HEALTH; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; LYMPHEDEMA; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; TYK2 KINASE; VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR-3;

EID: 33749046532     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-006-0031-3     Document Type: Article

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