Family Members with Congenital Heart Disease and Hypogammaglobulinemia

Author:

Tuzankina Irina A.,Bolkov Mikhail A.,Deryabina Svetlana S.,Vlasova Elena V.

Publisher

Springer International Publishing

Reference10 articles.

1. Tuzankina IA, Deryabina SS, Vlasova EV, Bolkov MA. Familial case of chromosome 22q11.2 deletion syndrome. Med Immunol (Russia). 2017;19(1):95–100. (In Russ.). https://doi.org/10.15789/1563-0625-2017-1-95-100 .

2. Deriabina SS, Karakina ML, Tuzankina IA. MLPA method in identifying a family case of chromosome 22 deletion syndrome. Bull Ural Med Acad Sci. 2014;3(49):206–8.

3. Bassett AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, Gatzoulis MA. Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet A. 2005;138(4):307–13.

4. Fung WL, Butcher NJ, Costain G, Andrade DM, Boot E, Chow EW, Chung B, Cytrynbaum C, Faghfoury H, Fishman L, Garcia-Minaur S, George S, Lang AE, Repetto G, Shugar A, Silversides C, Swillen A, van Amelsvoort T, McDonald-McGinn DM, Bassett AS. Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genet Med. 2015;17(8):599–609.

5. De Decker R, Bruwer Z, Hendricks L, Schoeman M, Schutte G, Lawrenson J. Predicted v. real prevalence of the 22q11.2 deletion syndrome in children with congenital heart disease presenting to Red Cross War Memorial Children’s Hospital, South Africa: a prospective study. S Afr Med J = Suid-Afrikaanse tydskrif vir geneeskunde. 2016;106(6 Suppl 1):S82–6.

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