First case report of Nager syndrome patient from Georgia

Nager syndrome (MIM #154400) is a rare acrofacial dysostosis syndrome predominantly characterized by malformations in craniofacial and preaxial limb bones. Most cases are sporadic and present with significant clinical heterogeneity. Although autosomal recessive and autosomal dominant modes of inheri...

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Detalles Bibliográficos
Autores principales: Tkemaladze, Tinatin, Bregvadze, Kakha, Kvaratskhelia, Eka, Kapoor, Manish Aaryan, Orjonikidze, Nino, Abzianidze, Elene
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9751155/
https://www.ncbi.nlm.nih.gov/pubmed/36530372
http://dx.doi.org/10.1177/2050313X221144219

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