牙甲皮肤发育不全：一种此前明显未被描述过的外胚层发育不全。
Odontoonychodermal dysplasia: a previously apparently undescribed ectodermal dysplasia.
作者信息
Fadhil M, Ghabra T A, Deeb M, Der Kaloustian V M
出版信息
Am J Med Genet. 1983 Feb;14(2):335-46. doi: 10.1002/ajmg.1320140213.
PMID:6837628
Abstract
Seven affected individuals in a total of 24 belonging to three inbred Lebanese sibships are presented as having a previously apparently undescribed pure ectodermal dysplasia. For this condition, probably owing to the homozygous state of an autosomal recessive gene, we suggest the name trichoodontodermal dysplasia.
摘要
在来自三个黎巴嫩近亲同胞家族的总共24名个体中，有7名受影响个体被认为患有一种此前显然未被描述过的单纯性外胚层发育不良。对于这种病症，可能由于常染色体隐性基因的纯合状态，我们建议将其命名为毛发牙本质发育不良。
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