Absent nails, kinesogenic choreoathetosis, epilepsy and developmental delay--a new autosomal dominant disorder?
作者信息
Lynch S A, Gardner-Medwin D, Burn J, Bushby K M
机构信息
Department of Paediatrics, Newcastle General Hospital, UK.
出版信息
Clin Dysmorphol. 1997 Apr;6(2):133-8.
PMID:9134293
Abstract
We report a mother and two sons with developmental delay, absent nails and an abnormal gait. Review of the literature did not reveal another report of this distinctive pattern of malformations. This family appears to represent a previously undescribed neurogenetic syndrome.
摘要
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