Osteogenesis imperfecta Type 1: a case presentation with a new mutation in gene COL1A1

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Klin Padiatr. 2004 Mar-Apr;216(2):91-3.

 

[Osteogenesis imperfecta Type 1: a case presentation with a new mutation in

gene COL1A1]

[Article in German]

Siegert T, Klein HG, Marschall C, Schmidt H.

Dr. von Haunersches Kinderspital der LMU Munchen.

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.

PMID: 15106082 [PubMed]

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