Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2

Clinical Genetics

Volumn 92, Issue 4, 2017, Pages 380-387

  van den Boogaard, M L ^a   Thijssen, P E ^a   Aytekin, C ^b   Licciardi, F ^c   Kiykim A A ^d   Spossito, L ^e   Dalm, V A S H ^f   Driessen, G J ^f,g   Kersseboom, R ^f,h   de Vries, F ^f   van Ostaijen ten Dam, M M ^a   Ikinciogullari, A ⁱ   Dogu, F ⁱ   Oleastro, M ^e   Bailardo, E ^e   Daxinger, L ^a   Nain, E ^d   Baris, S ^d   van Tol, M J D ^a   Weemaes, C ^j   van der Maarel, S M ^a   more..

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Dr Sami Ulus Maternity and Children's Research and Education Hospital   (Turkey)

^c REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

^d MARMARA UNIVERSITY   (Turkey)

^e HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^f ERASMUS MEDICAL CENTER   (Netherlands)

^g HAGA HOSPITAL   (Netherlands)

^h Stichting Zuidwester   (Netherlands)

ⁱ ANKARA UNIVERSITY   (Turkey)

^j RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

DNMT3B; ICF syndrome; immunodeficiency; ZBTB24

Indexed keywords

DNA; DNA METHYLTRANSFERASE 3B; IMMUNOGLOBULIN; CDCA7 PROTEIN, HUMAN; DNA (CYTOSINE 5) METHYLTRANSFERASE; DNA HELICASE; HELLS PROTEIN, HUMAN; NUCLEAR PROTEIN; REPRESSOR PROTEIN; ZBTB24 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; ENZYME ACTIVE SITE; FEMALE; GENDER BIAS; GENE; GENE LOCUS; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNODEFICIENCY CENTROMERIC INSTABILITY AND FACIAL ANOMALY SYNDROME; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL; SANGER SEQUENCING; SINGLE NUCLEOTIDE POLYMORPHISM; ZBTB24 GENE; ABNORMALITIES; ADOLESCENT; ADULT; ANIMAL; CENTROMERE; CHILD; DNA METHYLATION; FACE; GENETIC PREDISPOSITION; GENETICS; IMMUNE DEFICIENCY; MOUSE; PATHOLOGY; PATHOPHYSIOLOGY; PRESCHOOL CHILD; SEXISM; YOUNG ADULT;

ADOLESCENT; ADULT; ANIMALS; CENTROMERE; CHILD; CHILD, PRESCHOOL; DNA (CYTOSINE-5-)-METHYLTRANSFERASES; DNA HELICASES; DNA METHYLATION; FACE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MALE; MICE; MUTATION, MISSENSE; NUCLEAR PROTEINS; REPRESSOR PROTEINS; SEXISM; YOUNG ADULT;

EID: 85014665412     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12979     Document Type: Article

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