Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics (clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/1750-1172-1-2.pdf
Reference79 articles.
1. Maraschio P, Zuffardi O, Dalla Fior T, Tiepolo L: Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome. J Med Genet. 1988, 25: 173-180.
2. Jeanpierre M: Human satellites 2 and 3. Ann Genet. 1994, 37: 163-171.
3. Tiepolo L, Maraschio P, Gimelli G, Cuoco C, Gargani GF, Romano C: Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency. Hum Genet. 1979, 51: 127-137. 10.1007/BF00287166.
4. Hulten M: Selective somatic pairing and fragility at 1q12 in a boy with common variable immunodeficiency. Clin Genet. 1978, 14: 294.
5. Wijmenga C, Hansen RS, Gimelli G, Bjorck EJ, Davies EG, Valentine D, Belohradsky BH, van Dongen JJ, Smeets DF, van den Heuvel LP, Luyten JA, Strengman E, Weemaes C, Pearson PL: Genetic variation in ICF syndrome: evidence for genetic heterogeneity. Hum Mutat. 2000, 16: 509-517. 10.1002/1098-1004(200012)16:6<509::AID-HUMU8>3.0.CO;2-V.
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