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Type V Osteogenesis Imperfecta with Evidence of Perinatal Involvement: First Case Report in Mexico
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Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1002/ajmg.a.36409openalex-extracted
Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta
inferredcites →https://doi.org/10.1002/humu.20429openalex-extracted
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
inferredcites →https://doi.org/10.1002/humu.20799openalex-extracted
CRTAPandLEPRE1mutations in recessive osteogenesis imperfecta
inferredcites →https://doi.org/10.1002/jbmr.1983openalex-extracted
Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM 5 gene
inferredcites →https://doi.org/10.1002/jbmr.2156openalex-extracted
A Nonclassical IFITM5 Mutation Located in the Coding Region Causes Severe Osteogenesis Imperfecta With Prenatal Onset
inferredcites →https://doi.org/10.1002/jbmr.2173openalex-extracted
A Novel IFITM5 Mutation in Severe Atypical Osteogenesis Imperfecta Type VI Impairs Osteoblast Production of Pigment Epithelium-Derived Factor
inferredcites →https://doi.org/10.1002/jbmr.250openalex-extracted
Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome
inferredcites →https://doi.org/10.1002/jbmr.487openalex-extracted
Mutations in SERPINF1 cause osteogenesis imperfecta type VI
inferredcites →https://doi.org/10.1007/s00774-015-0667-1openalex-extracted
IFITM5 mutations and osteogenesis imperfecta
inferredcites →https://doi.org/10.1016/j.ajhg.2009.09.001openalex-extracted
PPIB Mutations Cause Severe Osteogenesis Imperfecta
inferredcites →https://doi.org/10.1016/j.ajhg.2010.01.034openalex-extracted
Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta
inferredcites →https://doi.org/10.1016/j.ajhg.2012.06.005openalex-extracted
A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V
inferredcites →https://doi.org/10.1016/j.ajhg.2012.06.011openalex-extracted
A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus
inferredcites →https://doi.org/10.1016/j.ejmg.2009.10.007openalex-extracted
Classification of Osteogenesis Imperfecta revisited
inferredcites →https://doi.org/10.1016/s0140-6736(15)00728-xopenalex-extracted
Osteogenesis imperfecta
inferredcites →https://doi.org/10.1038/ejhg.2009.75openalex-extracted
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis
inferredcites →https://doi.org/10.1038/ejhg.2015.81openalex-extracted
Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta
inferredcites →https://doi.org/10.1136/jmedgenet-2012-101307openalex-extracted
Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.−14C>T mutation in all patients
inferredcites →https://doi.org/10.1210/endrev/bnab017openalex-extracted
Osteogenesis Imperfecta: Mechanisms and Signaling Pathways Connecting Classical and Rare OI Types
inferredcites →https://doi.org/10.1359/jbmr.2000.15.9.1650openalex-extracted
Type V Osteogenesis Imperfecta: A New Form of Brittle Bone Disease
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