An apparently new syndrome of microcephalic primordial dwarfism and cataracts.
An apparently new syndrome of microcephalic primordial dwarfism and cataracts.
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一种明显新的小头型原始侏儒症和白内障综合征。
DOI：
10.1002/ajmg.1320250102
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发表时间：
1986
期刊：
影响因子：
--
通讯作者：
Higgins,JV
中科院分区：
文献类型：
--
作者：
Toriello,HV;Horton,WA;Oostendorp,A;Waterman,DF;Higgins,JV
We describe two sibs with prenatal‐onset growth deficiency, microcephaly, cataracts, mental retardation, enamel hypoplasia, immune deficiency, and generalized delay of ossification. The combination appears to constitute a previously undescribed autosomal recessive syndrome.
