DiGeorge Syndrome: Facial Dysmorphia as a Key for Diagnosis
DOI:
https://doi.org/10.24950/rspmi/imagem/214/2/2018Keywords:
DiGeorge Syndrome, HypoparathyroidismDownloads
References
Emanuel BS, McDonald-McGinn D, Saitta SC, Zackai EH. The 22q11.2 deletion syndrome. Adv Pediatr. 2001;48:39-73.
Óskarsdóttir S, Vujic M, Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child. 2004;89: 148-51.
McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, Finucane B, Driscoll DA, Emanuel BS, et al. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net! Genet Med. 2001;3:23-9.
McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 Deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine. 2011;90:1-18.
Morsheimer M, Brown Whitehorn TF, Heimall J, Sullivan KE. The immune deficiency of chromosome 22q11.2 deletion syndrome. Am J Med Genet A. 2017;173:2366-72.
Friedman N, Rienstein S, Yeshayahu Y, Gothelf D, Somech R. Post-childhood Presentation and Diagnosis of DiGeorge Syndrome. Clin Pediatr. 2016;55:368-73.
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