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

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...

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Veröffentlicht in:	American journal of medical genetics. Part A 2021-10, Vol.185 (10), p.3104-3110
Hauptverfasser:	Akalın, Akçahan, Taskiran, Ekim Z., Şimşek‐Kiper, Pelin Özlem, Utine, Eda, Alanay, Yasemin, Özçelik, Uğur, Boduroğlu, Koray
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Autoimmune Diseases - genetics Autoimmune Diseases - immunology Autoimmune Diseases - pathology Child Child, Preschool Classification Cysts Dwarfism - genetics Dwarfism - pathology Dysplasia exome sequencing EXTL3 Female Genetic Predisposition to Disease Genetic Testing Homozygote Humans Immunologic Deficiency Syndromes - genetics Immunologic Deficiency Syndromes - immunology Immunologic Deficiency Syndromes - pathology Infant Literature reviews Liver liver cysts Male Mutation, Missense - genetics N-Acetylglucosaminyltransferases - deficiency N-Acetylglucosaminyltransferases - genetics Neurodevelopmental disorders Osteochondrodysplasias - genetics Osteochondrodysplasias - immunology Osteochondrodysplasias - pathology Pedigree Sequence analysis Skeleton Spine - pathology spondyloepimetaphyseal dysplasia Vertebrae Young Adult
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