Publications:

Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.

Orphanet Journal Of Rare Diseases

Shangguan, Huakun H; Su, Chang C; Ouyang, Qian Q; Cao, Bingyan B; Wang, Jian J; Gong, Chunxiu C; Chen, Ruimin R

Publication Date: 2019-11-14

Variant appearance in text: KMT2D: 5235delA; A1746Lfs*39

PubMed Link: 31727177

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1219.pdf

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Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review.

Bmc Medical Genetics

Xin, Chengqi C; Wang, Chun C; Wang, Yachen Y; Zhao, Jingyuan J; Wang, Liang L; Li, Runjie R; Liu, Jing J

Publication Date: 2018-02-27

Variant appearance in text: KMT2D: 5235delA; A1746Lfs*39

PubMed Link: 29482518

Variant Present in the following documents:

• Main text
• 12881_2018_Article_545.pdf

View BVdb publication page