ICF syndrome in a girl with DNA hypomethylation but without detectable DNMT3B mutation

American Journal of Medical Genetics

Volumn 129 A, Issue 3, 2004, Pages 290-293

  Kubota, Takeo ^a,f   Furuumi, Hiroyasu ^b   Kamoda, Tomohiro ^c   Iwasaki, Nobuaki ^c   Tobita, Naomi ^c   Fujiwara, Nobuko ^c   Goto, Yu Ichi ^a   Matsui, Akira ^c   Sasaki, Hiroyuki ^b,d   Kajii, Tadashi ^e  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b NATIONAL INSTITUTE OF GENETICS   (Japan)

^c UNIVERSITY OF TSUKUBA   (Japan)

^d GRADUATE UNIVERSITY FOR ADVANCED STUDIES   (Japan)

^e University of Yamanashi ^*

^f UNIVERSITY OF YAMANASHI   (Japan)

Author keywords

Adrenocortical adenoma; DNA methylation; DNMT3B mutation; ICF syndrome

Indexed keywords

DNA; DNA METHYLTRANSFERASE 3B; IMMUNOGLOBULIN A;

ADRENAL CORTEX ADENOMA; APNEA; ARTICLE; CASE REPORT; CHROMOSOMAL PARAMETERS; CHROMOSOME FRAGILITY; CLEFT PALATE; CYTOGENETICS; DNA METHYLATION; DNMT3B GENE; EPIDEMIC MENINGITIS; FACE MALFORMATION; FEMALE; GENE; GENE MUTATION; HEART ATRIUM SEPTUM DEFECT; HUMAN; IMMUNE DEFICIENCY; IMMUNOGLOBULIN BLOOD LEVEL; LYMPHOCYTE; MACROGLOSSIA; MENTAL RETARDATION MALFORMATION SYNDROME; METAPHASE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; SEPSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTIC PARESIS; SYNDROME ICF; VIRILIZATION;

ABNORMALITIES, MULTIPLE; CENTROMERE; CHILD, PRESCHOOL; CHROMOSOMAL INSTABILITY; CRANIOFACIAL ABNORMALITIES; DNA METHYLATION; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA, SATELLITE; FEMALE; FLOW CYTOMETRY; HUMANS; IMMUNE SYSTEM DISEASES; MENTAL RETARDATION;

EID: 4444381560     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30135     Document Type: Article

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