The mutation spectrum in RECQL4 diseases

European Journal of Human Genetics

Volumn 17, Issue 2, 2009, Pages 151-158

  Siitonen, Annika H ^a   Sotkasiira, Jenni ^a   Biervliet, Martine ^b   Benmansour, Abdelmadjid ^c   Capri, Yline ^d   Cormier Daire, Valerie ^e   Crandall, Barbara ^f   Hannula Jouppi, Katariina ^g   Hennekam, Raoul ^h,i   Herzog, Denise ^j   Keymolen, Kathelijn ^k   Lipsanen Nyman, Marita ^g   Miny, Peter ^l   Plon, Sharon E ^m   Riedl, Stefan ⁿ   Sarkar, Ajoy ^o   Vargas, Fernando R ^p   Verloes, Alain ^q   Wang, Lisa L ^m   Kääriäinen, Helena ^a,r   Kestilä, Marjo ^a   more..

^a NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c General Pediatrician   (Algeria)

^d INSERM   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g UNIVERSITY OF HELSINKI   (Finland)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

ⁱ ACADEMIC MEDICAL CENTER   (Netherlands)

^j UNIVERSITÉ DE MONTRÉAL   (Canada)

^k UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^l UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^m BAYLOR COLLEGE OF MEDICINE   (United States)

ⁿ ST ANNA CHILDREN S HOSPITAL   (Austria)

^o UNIVERSITY COLLEGE LONDON   (United Kingdom)

^p FEDERAL UNIVERSITY OF THE STATE OF RIO DE JANEIRO   (Brazil)

^q HÔPITAL ROBERT DEBRÉ   (France)

^r UNIVERSITY OF TURKU   (Finland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN RECQL4; UNCLASSIFIED DRUG;

ARTICLE; BALLER GEROLD SYNDROME; BONE DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC RISK; GROWTH RETARDATION; HEALTH STATUS; HETEROZYGOTE; HUMAN; LYMPHOMA; MALIGNANT NEOPLASTIC DISEASE; NUCLEOTIDE SEQUENCE; OSTEOSARCOMA; PHENOTYPE; POIKILODERMA; PRIORITY JOURNAL; RAPADILINO SYNDROME; ROTHMUND THOMSON SYNDROME;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; GENETIC PREDISPOSITION TO DISEASE; GROWTH DISORDERS; HUMANS; LYMPHOMA; OSTEOSARCOMA; RECQ HELICASES; ROTHMUND-THOMSON SYNDROME; SYNDROME; YOUNG ADULT;

EID: 58349104333     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.154     Document Type: Article

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