Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Nature Genetics

Volumn 41, Issue 12, 2009, Pages 1272-1274

  Alders, Marielle ^a   Hogan, Benjamin M ^b   Gjini, Evisa ^b   Salehi, Faranak ^a   Al Gazali, Lihadh ^c   Hennekam, Eric A ^b   Holmberg, Eva E ^d   Mannens, Marcel M A M ^a   Mulder, Margot F ^e   Offerhaus, G Johan A ^a,b   Prescott, Trine E ^d   Schroor, Eelco J ^f   Verheij, Joke B G M ^g   Witte, Merlijn ^b   Zwijnenburg, Petra J ^a,e   Vikkula, Mikka ^a   Schulte Merker, Stefan ^b   Hennekam, Raoul C ^h  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^d OSLO UNIVERSITY HOSPITAL   (Norway)

^e VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^f ISALA HOSPITAL   (Netherlands)

^g UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CCBE1 GENE; CLINICAL ARTICLE; CONTROLLED STUDY; DYSPLASIA; FEMALE; GENE; GENE MAPPING; GENE MUTATION; GENETIC SUSCEPTIBILITY; HENNEKAM SYNDROME; HOMOZYGOSITY; HUMAN; LYMPH VESSEL; LYMPHANGIECTASIS; LYMPHANGIOGENESIS; LYMPHEDEMA; MALE; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; ORTHOLOGY; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; ANIMALS; CONSANGUINITY; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; LYMPHANGIECTASIS; LYMPHEDEMA; MALE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; SYNDROME; YOUNG ADULT;

DANIO RERIO;

EID: 70649091987     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.484     Document Type: Article

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