Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 8, 2012, Pages 2043-2046

  Cerbone, Manuela ^a   Wang, Jun ^b   Van der Maarel, Silvère M ^b   D'Amico, Alessandra ^a   D'Agostino, Antonio ^a   Romano, Alfonso ^a   Brunetti Pierri, Nicola ^a,c  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

Author keywords

Centromeric instability; Facial anomalies syndrome; ICF syndrome; Immunodeficiency; ZBTB24

Indexed keywords

IMMUNOGLOBULIN M;

AGAMMAGLOBULINEMIA; ARACHNOID CYST; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN DEVELOPMENT; BRAIN MALFORMATION; CAFE AU LAIT SPOT; CHILD; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; FACE MALFORMATION; GENE; HUMAN; IMMUNE DEFICIENCY; IMMUNODEFICIENCY, CENTROMERIC INSTABILITY, FACIAL ANOMALY SYNDROME; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOGLOBULIN DEFICIENCY; IMMUNOPATHOLOGY; INTELLECTUAL IMPAIRMENT; LABORATORY TEST; MISSENSE MUTATION; PRIORITY JOURNAL; SCHOOL CHILD; ZBTB24 GENE;

BRAIN DISEASES; CENTROMERE; CHILD; CYSTS; FACIES; HUMANS; MALE; MUTATION; REPRESSOR PROTEINS; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 84864123379     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35486     Document Type: Article

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