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

American journal of medical genetics. Part A - 1 Oct 2021

Akalın Akçahan, Taskiran Ekim Z, Şimşek-Kiper Pelin Özlem, Utine Eda, Alanay Yasemin, Özçelik Uğur, Boduroğlu Koray

Abstract excerpt

Spondyloepimetaphyseal dysplasia (SEMD) is a group of genetic skeletal disorders characterized by disproportionate short stature, and varying degrees of vertebral, epiphyseal, and metaphyseal involvement of the skeleton. According to the Nosology and classification of genetic skeletal disorders 2019 revision, more than 20 types of SEMD have been identified, and SEMD with immune deficiency, EXTL3 type is one of...

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Autoimmune Diseases
Dwarfism
Homozygote
Immunologic Deficiency Syndromes
Mutation, Missense

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N-Acetylglucosaminyltransferases

Osteochondrodysplasias

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PMID: 34089299
DOI: 10.1002/ajmg.a.62378

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