A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.
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Professional awareness is needed to distinguish between child physical abuse from other disorders that can mimic signs of abuse (Skull base sclerosis in infant manifesting features of infantile cortical hyperostosis): a case report and review of theDegenerative suspensory ligament desmitis as a systemic disorder characterized by proteoglycan accumulationPrenatal cortical hyperostosis with COL1A1 gene mutationAn autoinflammatory disease with deficiency of the interleukin-1-receptor antagonistStatistical analysis of interface similarity in crystals of homologous proteinsCandidate cell and matrix interaction domains on the collagen fibril, the predominant protein of vertebratesManaging the patient with osteogenesis imperfecta: a multidisciplinary approach.Caffey disease: an unlikely collagenopathy.Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis.Genotype-phenotype correlations in autosomal dominant osteogenesis imperfectaInfantile cortical hyperostosis and COL1A1 mutation in four generations.Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.Caffey's disease: an unusual cause for concern.Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.New perspectives on osteogenesis imperfectaThe Ehlers-Danlos syndrome, a disorder with many faces.Caffey disease: new perspectives on old questions.Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease).The Ehlers-Danlos syndromes, rare types.Bone Material Properties in Osteogenesis Imperfecta.Canine models of human rare disordersCaffey's Disease Sans Mandibular and Clavicular Involvement: A Rare Case Report.Osteomyelitis and beyond.A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.Caffey disease in neonatal period: the importance of the family!Birth Order and Maternal Age for Reported Cases of Severe Prenatal Cortical Hyperostosis (Caffey?Silverman Disease).The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta.Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.Autism and heritable bone fragility: A true association?
P2860
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P2860
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.
description
2005 nî lūn-bûn
@nan
2005 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
A novel COL1A1 mutation in inf ...... of collagen-related disorders.
@ast
A novel COL1A1 mutation in inf ...... of collagen-related disorders.
@en
type
label
A novel COL1A1 mutation in inf ...... of collagen-related disorders.
@ast
A novel COL1A1 mutation in inf ...... of collagen-related disorders.
@en
prefLabel
A novel COL1A1 mutation in inf ...... of collagen-related disorders.
@ast
A novel COL1A1 mutation in inf ...... of collagen-related disorders.
@en
P2093
P2860
P356
P1476
A novel COL1A1 mutation in inf ...... of collagen-related disorders.
@en
P2093
Catherine Barclay
Catherine Chan
David Sillence
Harald Jüppner
Hilal Abuzahra
Jonathan G Seidman
Leena Ala Kokko
Murat Bastepe
Outi Mäkitie
Richard Couper
P2860
P304
P356
10.1172/JCI22760
P407
P577
2005-05-01T00:00:00Z