Article

Hypoparathyroidism Retardation and Dysmorphism syndrome due to mutation in Tubulin-specific chaperone E gene as a cause of combined immune deficiency

2022-07-07

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>: Hypoparathyroidism, retardation, and dysmorphism (HRD) syndrome is a disease composed of hypoparathyroidism, growth retardation, developmental delay and typical dysmorphic features, caused by Tubulin-specific chaperone E gene mutation. Many patients succumb in infancy due to overwhelming infections mainly caused by Pneumococcu s spp. Knowledge related to the imm...

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Literature Corpus work: f55b44df-b0b0-568d-9236-df8167251741
DOI: 10.21203/rs.3.rs-1792160/v1

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