一个新发现的 CAPZA2 触须结构域内含子缺失变异导致的全面发育迟缓伴次要性小头畸形。
A de novo inframe deletion variant in CAPZA2 tentacle domain with global developmental delay and secondary microcephaly.
机构信息
Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, China.
出版信息
Clin Genet. 2022 Oct;102(4):355-356. doi: 10.1111/cge.14186. Epub 2022 Jul 20.
PMID:35856264
Abstract
(A) Sanger sequencing confirmation and family pedigree for the patient. (B) A schematic representation of transcript and translation showing the positions of all CAPZA2 variants identified.
摘要
(A) 对患者进行桑格测序确认和家系分析。(B) 显示所有鉴定出的 CAPZA2 变异位置的转录本和翻译示意图。
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