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- W2007091343 abstract "THE WORK done by Kousseff and his co-workers 1 at the University of South Florida, Tampa, the several papers from a symposium published recently in the American Journal of Medical Genetics , 2-25 and subsequent publications 26-29 attest to a strong ongoing interest in the Brachmann—de Lange syndrome (BDLS) by many different biomedical specialists. An editorial comment in 1985 30 summarized several of the historical, developmental, and genetic aspects of this condition and reviewed the data on which causal hypotheses had been based. Kousseff et al 1 contribute importantly to this genetic database through their observation of affected, half first cousins. The father of patient 2 was the half brother of the mother of patient 1, and both had some manifestations of BDLS, including shortness of stature, small head, synophrys, microstomia, highly arched palate, myopia, micromelia, intellectual impairment (mother of patient 1), and marked hypertrichosis with inability to read or" @default.
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- W2007091343 date "1994-11-01" @default.
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- W2007091343 title "Brachmann—de Lange Syndrome" @default.
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- W2007091343 doi "https://doi.org/10.1001/archpedi.1994.02170110092016" @default.
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