Jugular pit associated with 5q14.3 deletion incorporating the MEF2C locus: a recurrent clinical finding.
第一作者:
Maryam,Al-Shehhi
第一单位:
aDepartment of Clinical Genetics, Our Lady's Children Hospital Crumlin bDepartment of Radiology, Temple Street Childrens University Hospital, Dublin, Ireland.
作者:
主题词
染色体缺失(Chromosome Deletion);染色体, 人, 5对(Chromosomes, Human, Pair 5);比较基因组杂交(Comparative Genomic Hybridization);发育障碍(Developmental Disabilities);人类(Humans);婴儿(Infant);颈静脉(Jugular Veins);男(雄)性(Male);发作(Seizures)
DOI
10.1097/MCD.0000000000000102
PMID
26426104
发布时间
2015-12-01
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