Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)

Orphanet journal of rare diseases

Volumn 9, Issue , 2014, Pages 116-

  von Bernuth, Horst ^a   Ravindran, Ethiraj ^a   Du, Hang ^a   Fröhler, Sebastian ^a   Strehl, Karoline ^a   Krämer, Nadine ^a   Issa Jahns, Lina ^a   Amulic, Borko ^b   Ninnemann, Olaf ^a   Xiao, Mei Sheng ^a   Eirich, Katharina ^a   Kölsch, Uwe ^a   Hauptmann, Kathrin ^a   John, Rainer ^a   Schindler, Detlev ^a   Wahn, Volker ^a   Chen, Wei ^a   Kaindl, Angela M ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

REPRESSOR PROTEIN; ZBTB24 PROTEIN, HUMAN;

ABNORMALITIES; AUTOIMMUNE DISEASES; CASE REPORT; CENTROMERE; CHILD; CHROMOSOMAL INSTABILITY; DISEASE COURSE; DNA METHYLATION; DNA MUTATIONAL ANALYSIS; FACE; FEMALE; GENETICS; HUMAN; HUMAN CHROMOSOME; IMMUNOLOGIC DEFICIENCY SYNDROMES; MUTATION; PHENOTYPE;

AUTOIMMUNE DISEASES; CENTROMERE; CHILD; CHROMOSOMAL INSTABILITY; CHROMOSOMES, HUMAN; DISEASE PROGRESSION; DNA METHYLATION; DNA MUTATIONAL ANALYSIS; FACE; FEMALE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MUTATION; PHENOTYPE; REPRESSOR PROTEINS;

EID: 85017291390     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-014-0116-6     Document Type: Article

References (0)