A CLINICAL CASE OF OSTEOGENESIS IMPERFECT TYPE III, DETERMINED BY COL1A1 (P.GLY845ARG) GENE MUTATION IN A NEWBORN GIRL

Osteogenesis imperfecta (OI) is a disease that is characterized by hereditary connective tissue dysplasia and is clinically manifested as excessive bone fragility and limb deformity. The overall incidence of OI is 1:10,000-20,000 live births. The main autosomal dominant inheritance path, autosomal...

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Detalhes bibliográficos

Principais autores:	І. Ластівка, В. Анцупова, А. Бабінцева, О. Юрків, Л. Брішевац, І. Малєєва
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Bukovynian State Medical University 2022-05-01
coleção:	Неонатологія, хірургія та перинатальна медицина
Assuntos:	Osteogenesis Imperfecta; Mutation of the COL1a1 gene (p.Gly845Arg); de novo Mutation.
Acesso em linha:	http://neonatology.bsmu.edu.ua/article/view/256348
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