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Genetic-epidemiologic study of omphalocele and gastroschisis: Evidence for heterogeneity

✍ Scribed by Yang, Ping ;Beaty, Terri H. ;Khoury, Muin J. ;Chee, Elsbeth ;Stewart, Walter ;Gordis, Leon

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 856 KB
Volume: 44
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320440528

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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