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Article

EXTL3-Associated Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities: A Lethal Phenotype.

Pediatric allergy, immunology, and pulmonology - 1 Dec 2023

Demir Engin, Adım Filiz, Döğen Mehmet Ercüment, Aydoğdu Ayşe, Yeşil Edanur, Mermer Serdar, Başer Burak, Ürel Demir Gizem

Abstract excerpt

Background: Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) caused by Exostosin-Like Glycosyltransferase 3 (EXTL3) biallelic mutations is a very rare syndrome with only 16 cases reported in the literature. Skeletal dysplasia, neurodevelopmental delay, immunodeficiency, liver, and kidney cysts are the most common findings of this syndrome. Case Presentation: Here, we report on a patient who...

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PMID: 38010729
DOI: 10.1089/ped.2023.0079

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