Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature

Orphanet Journal of Rare Diseases

Gilyazetdinov Kamil¹  Ju Young Yoon²  Sukdong Yoo²  Chong Kun Cheon³ 

[1] Department of Pediatrics, National Children’s Medical Center, Tashkent, Uzbekistan;Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea;Division of Pediatric Endocrinology, Department of Pediatrics, Pusan National University Children’s Hospital, Yangsan, Korea;Division of Pediatric Endocrinology, Department of Pediatrics, Pusan National University Children’s Hospital, Yangsan, Korea;Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea;

关键词: Mutation;    Short stature;    Syndrome;    Targeted exome sequencing;   

DOI  :  10.1186/s13023-021-01937-8

来源: Springer

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