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Article

CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant in RASGRP2.

International journal of molecular sciences - 17 Nov 2021

Morais Sara, Pereira Mónica, Lau Catarina, Gonçalves Ana, Monteiro Catarina, Gonçalves Marta, Oliveira Jorge, Moreira Lurdes, Cruz Eugénia, Santos Rosário, Lima Margarida

Abstract excerpt

RASGRP2 encodes the calcium and diacylglycerol (DAG)-regulated guanine nucleotide exchange factor I (CalDAG-GEFI) identified as a Rap1-activating molecule. Pathogenic variants previously identified in RASGRP2 allowed the characterization of CalDAG-GEFI deficiency as a non-syndromic, autosomal recessive platelet function disease. We report on the clinical manifestations and laboratory features of a Portuguese...

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Identifiers

PMID: 34830306
DOI: 10.3390/ijms222212423
PMCID: PMC8618213

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