| Literature DB >> 15106082 |
T Siegert1, H-G Klein, C Marschall, H Schmidt.
Abstract
In a 4 year old girl the diagnosis osteogenesis imperfecta type I was suspected by following clinical criteria: four fractures after small trauma, intensive blue sclera, anomalies of dental enamel, macrocephalie with frontal bassing. Clinical diagnosis could be verified by moleculargenetic analysis, a newly recognized heterozygous point mutation (Arg420Stop) in the COL1A1-gene was found.Entities:
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Year: 2004 PMID： 15106082 DOI： 10.1055/s-2004-823144
Source DB: PubMed Journal: Klin Padiatr ISSN： 0300-8630 Impact factor: 1.349