Impact of genomics on the identification and family characterization of genetic diseases collagen

Osteogenesis Imperfecta (OI) is a genetic disorder primarily resulting from pathogenic variants in the COL1A1 or COL1A2 genes, responsible for collagen synthesis.

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Publication Details

Journal
Annals of Case Reports and Medical Images
Published
2024-08-14
DOI
https://doi.org/10.52768/3065-7849/1001
Primary Topic
Connective tissue disorders research
Type
article
Field-Weighted Citation Impact
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article

Impact of genomics on the identification and family characterization of genetic diseases collagen

Stefania Ramirez
Annals of Case Reports and Medical Images
Connective tissue disorders research
article

Impact of genomics on the identification and family characterization of genetic diseases collagen

Stefania Ramirez
article en

Abstract

Osteogenesis Imperfecta (OI) is a genetic disorder primarily resulting from pathogenic variants in the COL1A1 or COL1A2 genes, responsible for collagen synthesis.

Annals of Case Reports and Medical ImagesVol. 1(1)
Openalex Percentile: Top 71%
Connective tissue disorders research
DOIOpen Access PDFOpenAlex
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Impact of genomics on the identification and family characterization of genetic diseases collagen — Stefania Ramirez · Annals of Case Reports and Medical Images (2024) | TGRS Research Map | TGRS