Evaluation of clinical manifestations in patients with severe lymphedema with and without CCBE1 mutations

Molecular Syndromology

Volumn 4, Issue 3, 2013, Pages 107-113

  Alders, M ^a   Mendola, A ^b   Ades L ^c   Al Gazali, L ^d   Bellini, C ^e   Dallapiccola, B ^f   Edery, P ^g,h   Frank, U ⁱ   Hornshuh, F ^j   Huisman, S A ^k   Jagadeesh, S ^l   Kayserili, H ^m   Keng, W T ⁿ   Lev, D ^o   Prada, C E ^p   Sampson, J R ^q   Schmidtke, J ^r   Shashi, V ^s   Van Bever, Y ^t   Van Der Aa, N ^u   Verhagen, J M ^t   Verheij, J B ^v   Vikkula, M ^b   Hennekam, R C ^a,w   more..

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b DE DUVE INSTITUTE   (Belgium)

^c UNIVERSITY OF SYDNEY   (Australia)

^d UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^e UNIVERSITY OF GENOA   (Italy)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^g HOSPICES CIVILS DE LYON   (France)

^h UNIVERSITÉ LYON 1   (France)

ⁱ Sozialpädiatrisches Zentrum   (Germany)

^j UNIVERSITY OF WITTEN HERDECKE   (Germany)

^k Prinsenstichting   (Netherlands)

^l Foetal Care Research   (India)

^m ISTANBUL UNIVERSITY   (Turkey)

ⁿ HOSPITAL KUALA LUMPUR   (Malaysia)

^o WOLFSON MEDICAL CENTER   (Israel)

^p CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^q CARDIFF UNIVERSITY   (United Kingdom)

^r HANNOVER MEDICAL SCHOOL   (Germany)

^s DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^t ERASMUS MEDICAL CENTER   (Netherlands)

^u UNIVERSITY OF ANTWERP   (Belgium)

^v UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^w ACADEMIC MEDICAL CENTER   (Netherlands)

more..

Author keywords

Autosomal recessive; CCBE1; Genotype phenotype; Hennekam syndrome; Lymphangiectasia; Lymphatic dysplasia; Lymphedema

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL EVALUATION; DYSPLASIA; FEMALE; GENE MUTATION; GENETIC SCREENING; HENNEKAM SYNDROME; HUMAN; INFANT; LYMPHEDEMA; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; GENE CCBE1; GENOTYPE PHENOTYPE CORRELATION; LYMPHANGIECTASIS; MARKER GENE; SYNDROME; YOUNG ADULT;

EID: 84876225837     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000342486     Document Type: Article

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