Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review

BMC Medical Genomics

Hyun Kyung Park¹  Jinsup Kim¹  Hyun Ju Lee¹  Soyoung Bae¹  Aram Yang² 

[1] Department of Pediatrics, Hanyang University Medical Center, Hanyang University College of Medicine, 222-1, Wangshimri-ro, Sungdong-gu, 04763, Seoul, Republic of Korea;Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea;

关键词: Case report;    Facial dysmorphism;    Cleft palate;    KAT6A;    Arboleda-Tham syndrome;   

DOI  :  10.1186/s12920-021-01148-x

来源: Springer

【 授权许可】

CC BY