Homozygosity mapping in a family with mi
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Horn, Denise; Krebsov�, Alice; Kunze, J�rgen; Reis, Andr�
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Article
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2000
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John Wiley and Sons
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English
⚖ 67 KB
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A syndrome of microcephaly, progressive postnatal growth deficiency, and mental retardation was observed in two brothers and their cousin from a multiply consanguineous kindred of Lebanese descent. Hypotonia, chorioretinal dystrophy, and myopia were also identified. The severity of the condition var