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Genetic and clinical heterogeneity of Stickler syndrome

✍ Scribed by Vintiner, Gillian M. ;Temple, I. Karen ;Middleton-Price, Helen R. ;Baraitser, Michael ;Malcolm, Sue

Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
494 KB
Volume
41
Category
Article
ISSN
0148-7299

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✦ Synopsis

We have studied 6 multigeneration Stickler syndrome families. Manifestations of the syndrome in the families included myopia, deafness, arthritis, characteristic facial changes with "flat" midface and cleft palate, although not all these were present in all families. COL2Al has been implicated as a gene which can give rise to Stickler syndrome based on evidence from 2 large families which each showed significant linkage between the disease locus and restriction fragment length polymorphisms for the gene (F'rancomano CA, Lieberfarb RM,

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