Heterogeneous clinical presentation in icf syndrome: Correlation with underlying gene defects

European Journal of Human Genetics

Volumn 21, Issue 11, 2013, Pages 1219-1225

  Weemaes, Corry Mr ^a   Van Tol, Maarten Jd ^b   Wang, Jun ^b,r   Van Ostaijen Ten Dam, Monique M ^b   Van Eggermond, Marja Cja ^b   Thijssen, Peter E ^b   Aytekin, Caner ^c   Brunetti Pierri, Nicola ^d   Van Der Burg, Mirjam ^e   Graham Davies, E ^f   Ferster, Alina ^g   Furthner, Dieter ^h   Gimelli, Giorgio ⁱ   Gennery, Andy ^j   Kloeckener Gruissem, Barbara ^k,l   Meyn, Stephan ^m   Powell, Cynthia ⁿ   Reisli, Ismail ^o   Schuetz, Catharina ^p   Schulz, Ansgar ^p   Shugar, Andrea ^m   Van Den Elsen, Peter J ^b,q   Van Der Maarel, Silvère M ^b   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Education and Research Hospital   (Turkey)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^e ERASMUS MEDICAL CENTER   (Netherlands)

^f GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^g HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^h KEPLER UNIVERSITY HOSPITAL   (Austria)

ⁱ G GASLINI INSTITUTE   (Italy)

^j NEWCASTLE UNIVERSITY   (United Kingdom)

^k UNIVERSITY OF ZURICH   (Switzerland)

^l ETH ZURICH   (Switzerland)

^m HOSPITAL FOR SICK CHILDREN   (Canada)

ⁿ UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^o NECMETTIN ERBAKAN UNIVERSITY   (Turkey)

^p UNIVERSITY HOSPITAL ULM   (Germany)

^q VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^r SOOCHOW UNIVERSITY   (China)

more..

Author keywords

DNMT3B; genotype phenotype; ICF syndrome; ZBTB24

Indexed keywords

DNA METHYLTRANSFERASE 3B; UNCLASSIFIED DRUG; ZINC FINGER AND BTB DOMAIN CONTAINING 24 PROTEIN; ZINC FINGER PROTEIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; B LYMPHOCYTE; CHILD; CHROMOSOMAL INSTABILITY; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL MALFORMATION; CONTROLLED STUDY; FACE MALFORMATION; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMORAL IMMUNE DEFICIENCY; IMMUNE DEFICIENCY; IMMUNODEFICIENCY WITH CENTROMERIC INSTABILITY AND FACIAL ANOMALIES SYNDROME; INFANT; INTELLECTUAL IMPAIRMENT; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; T LYMPHOCYTE;

ADOLESCENT; ADULT; CHILD; DEMOGRAPHY; DNA (CYTOSINE-5-)-METHYLTRANSFERASE; FACE; FEMALE; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; IMMUNOGLOBULIN G; IMMUNOLOGIC DEFICIENCY SYNDROMES; LYMPHOCYTE COUNT; MALE; MIDDLE AGED; MUTATION; REPRESSOR PROTEINS; YOUNG ADULT;

EID: 84885945266     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.40     Document Type: Article

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