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pro vyhledávání: '"Maurice Super"'
Publikováno v:
American Journal of Medical Genetics. 71:229-232
We report on a family with patent ductus arteriosus, a distinctive facial appearance with eyebrow flare, a short nose and “duck-bill lips,” polydactyly, and fifth finger clinodactyly. The facial traits were consistent with CHAR syndrome. We provi
Autor:
Christine Swindlehurst, Maurice Super
Publikováno v:
American journal of medical genetics. 18(3)
The high incidence of carriers of cystic fibrosis in the general population allows application of a less than perfect test to genetic counselling of relatives of children with the disorder and their spouses. In the absence of a definitive carrier det