Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency
Odeya David, Eyal Kristal, Galina Ling, Arnon Broides, Nurit Hadad, George Shubinsky, Amit Nahum
Topics & Concepts
HypoparathyroidismFacial dysmorphismGeneImmune systemBiologyIntellectual disabilityGeneticsMedicineChaperone (clinical)ImmunologyPhenotypeEndocrinologyPathologyCongenital heart defects researchAdrenal Hormones and DisordersThyroid Disorders and Treatments