An Unusual Diagnosis of Sporadic Type III Osteogenesis Imperfecta in the First Day of Life

Osteogenesis imperfecta (OI) is a group of rare, permanent genetic bone disorders resulting from the mutations in genes encoding type 1 collagen. It usually is inherited by an autosomal dominant pattern, but it can sometimes occur sporadically. Among the four main types, type III is the most severe...

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Detalles Bibliográficos
Autores principales: Shikhrakar, Shreeja, Mandal, Sujit Kumar, Sharma, Pradeep, Shrestha, Sneha, Bhattarai, Sanket
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9192219/
https://www.ncbi.nlm.nih.gov/pubmed/35706981
http://dx.doi.org/10.1155/2022/3251980

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