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Syndrome of brittle cornea, blue sclera, and joint hyperextensibility

✍ Scribed by Zlotogora, Joel ;BenEzra, David ;Cohen, Tirza ;Cohen, Evelyne


Publisher
John Wiley and Sons
Year
1990
Tongue
English
Weight
359 KB
Volume
36
Category
Article
ISSN
0148-7299

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A heterozygous deletion of exon 9 in the COL1A2 -mRNA of a patient with symptoms of both the Ehlers -Danlos -Syndrome and the Osteogenesis Imperfecta is described. In the genomic DNA of the patient, exon 9 is homozygously present. We identified a novel heterozygous point mutation in the splice donor