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Evidence for genetic heterogeneity in familial isolated patella aplasia-hypoplasia

โœ Scribed by Bongers, Ernie M.H.F. ;van Bokhoven, Hans ;Knoers, Nine V.A.M. ;Hamel, Ben C.J. ;Woods, C. Geoffrey


Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
76 KB
Volume
108
Category
Article
ISSN
0148-7299

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We report on 2 brothers with severe manifestations of the whistling-face/windmill-vane-hand syndrome (also called "craniocarpotarsal dystrophy"; Freeman-Sheldon syndrome); they were born to normal, nonconsanguineous parents. Our observations support the theory of causal heterogeneity of this syndrom