Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency

BACKGROUND: Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome is a disease composed of hypoparathyroidism, growth retardation, severe developmental delay, and typical dysmorphic features caused by the tubulin-specific chaperone E gene variant. Many patients succumb in infancy to HRD due to o...

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Detalles Bibliográficos
Autores principales: David, Odeya, Kristal, Eyal, Ling, Galina, Broides, Arnon, Hadad, Nurit, Shubinsky, George, Nahum, Amit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9579628/
https://www.ncbi.nlm.nih.gov/pubmed/36258138
http://dx.doi.org/10.1007/s10875-022-01380-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9579628/
https://www.ncbi.nlm.nih.gov/pubmed/36258138
http://dx.doi.org/10.1007/s10875-022-01380-9

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