Genotype-phenotype relationship for localization and age distribution of telangiectases in hereditary hemorrhagic telangiectasia

American Journal of Medical Genetics, Part A

Volumn 146, Issue 21, 2008, Pages 2733-2739

  Letteboer, Tom G W ^a   Mager, Hans Jurgen ^b   Snijder, Repke J ^b   Lindhout, Dick ^a   Ploos Van Amstel, Hans Kristian ^a   Zanen, Pieter ^b   Westermann, Kees J J ^b  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b ST ANTONIUS HOSPITAL   (Netherlands)

Author keywords

ENG and ACVRL1; HHT; Mucosal and dermal manifestations; Telangiectases

Indexed keywords

ACVRL1 GENE; ADULT; AGE DISTRIBUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; ENG GENE; FAMILY HISTORY; FAMILY STUDY; FEMALE; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MOUTH MUCOSA; NOSE MUCOSA; PHYSICAL EXAMINATION; PREVALENCE; PRIORITY JOURNAL; RENDU OSLER WEBER DISEASE; SCREENING TEST; SEX DIFFERENCE; SKIN MANIFESTATION; TELANGIECTASIA;

ACTIVIN RECEPTORS, TYPE II; ADOLESCENT; ADULT; AGE FACTORS; AGED; ANTIGENS, CD; CHILD; CHILD, PRESCHOOL; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MOUTH MUCOSA; NASAL MUCOSA; PHENOTYPE; RECEPTORS, CELL SURFACE; SEX FACTORS; SKIN; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 55849086919     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32243     Document Type: Article

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