<i>EXTL3</i>-Associated Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities: A Lethal Phenotype-Reference-Cited by-同舟云学术

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

Published:2023-12-01 Issue:4 Volume:36 Page:147-149
ISSN:2151-321X
Container-title:Pediatric Allergy, Immunology, and Pulmonology
language:en
Short-container-title:Pediatric Allergy, Immunology, and Pulmonology

Author:

Demir Engin¹,Adım Filiz²,Döğen Mehmet Ercüment³,Aydoğdu Ayşe⁴^ORCID,Yeşil Edanur⁵,Mermer Serdar⁶,Başer Burak⁶,Ürel Demir Gizem⁷

Affiliation:

1. Division of Pediatric Gastroenterology, Department of Pediatrics, Mersin City Training and Research Hospital, Mersin, Turkey.

2. Department of Pediatrics, Mersin City Training and Research Hospital, Mersin, Turkey.

3. Department of Radiology, Mersin City Training and Research Hospital, Mersin, Turkey.

4. Division of Pediatric Allergy and Immunology, Department of Pediatrics, Mersin City Training and Research Hospital, Mersin, Turkey.

5. Division of Pediatric Infectious Diseases, Department of Pediatrics, Mersin City Training and Research Hospital, Mersin, Turkey.

6. Department of Medical Genetics, Mersin City Training and Research Hospital, Mersin, Turkey.

7. Division of Pediatric Genetics, Department of Pediatrics, Mersin City Training and Research Hospital, Mersin, Turkey.

Publisher

Mary Ann Liebert Inc

Subject

Pulmonary and Respiratory Medicine,Immunology and Allergy,Pediatrics, Perinatology and Child Health

Link

https://www.liebertpub.com/doi/pdf/10.1089/ped.2023.0079

Reference10 articles.

1. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

2. EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

3. Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia

4. Spondyloepimetaphyseal dysplasia EXTL3‐deficient type: Long‐term follow‐up and review of the literature

5. An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report

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