Genetic and clinical heterogeneity of St
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Vintiner, Gillian M. ;Temple, I. Karen ;Middleton-Price, Helen R. ;Baraitser, Mi
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Article
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1991
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John Wiley and Sons
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English
โ 494 KB
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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