Familial segregation of a 5q15‐q21.2 deletion associated with facial dysmorphism and speech delay

Clinical Case Reports

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[1] Division of Laboratory Genetics and Genomics, Departments of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota;School of Medicine and Public Health, University of Wisconsin, Madison, Wisconsin;

关键词: CHD1;    chromosome microarray;    copy number variant;    deletion;    developmental delay;    haploinsufficiency;   

DOI  :  10.1002/ccr3.2186

来源: publisher

【 授权许可】

Unknown