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

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects

(2013) Corry MR Weemaes et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients

(2013) Hirohisa Nitta et al.   JOURNAL OF HUMAN GENETICS

Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due toZBTB24mutations, presenting with large cerebral cyst

(2012) Manuela Cerbone et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2

(2011) Jessica C. de Greef et al.   AMERICAN JOURNAL OF HUMAN GENETICS

What’s the hype about CDK5RAP2?

(2011) Nadine Kraemer et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

A novel deletion inZBTB24in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2

(2011) E Chouery et al.   CLINICAL GENETICS

Autoimmunity, autoinflammation and lymphoma in combined immunodeficiency (CID)

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