Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: report of two siblings

Autor:	Truck, J, Kelly, DF, Taylor, JM, Kienzler, A-K, Lester, T, Seller, A, Pollard, AJ, Patel, SY
Rok vydání:	2016
Popis:	We describe the phenotype of 2 siblings with combined immunodeficiency due to CTPS1 deficiency and demonstrate the value of WES for rapid diagnosis of primary immunodeficiency even for conditions whose phenotype is not well recognized.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ca81fa8f2bb641df1b303aab55d8bb65 https://ora.ox.ac.uk/objects/uuid:ace8197c-4301-4517-bdd3-6f2b8082a34d Zobrazit plný text záznamu