遇见数据集

Diabetes and microcephaly in a large consanguineous family.

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NIAID Data Ecosystem2026-03-08 收录
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(A) Three siblings presented with young onset diabetes and microcephaly with intellectual disability (black symbols); arrow shows the proband. Hatched symbols represent relatives with adult onset diabetes and the blue hatched symbol gestational diabetes. The double line indicates consanguinity. M/M denotes two mutant alleles, N/M one normal and one mutant allele. (B) A head MRI in the proband at age 26 years showed a small brain with normal architecture and normal gyration. (C) The radiograph of the hands showed normally shaped bones and absence of epiphyseal dysplasia.

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2013-10-31
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