immunodeficiency-centromeric instability-facial anomalies syndrome
about
Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndromeVariability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome. Report of two new patients and review of the literature.Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome
P921
immunodeficiency-centromeric instability-facial anomalies syndrome
description
autosomal recessive disease ch ...... facial anomalies in most cases
@en
name
ICF syndrome
@fr
immunodeficiency-centromeric instability-facial anomalies syndrome
@en
type
label
ICF syndrome
@fr
immunodeficiency-centromeric instability-facial anomalies syndrome
@en
altLabel
ICF syndrome
@en
prefLabel
ICF syndrome
@fr
immunodeficiency-centromeric instability-facial anomalies syndrome
@en
P2888
P279
P31
P4229
P699
DOID:0090007