Publications:

Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review.

Frontiers In Pediatrics

Shangguan, Huakun H; Chen, Ruimin R

Publication Date: 2022

Variant appearance in text: KMT2D: 5845delC; Q1949Sfs*98

PubMed Link: 35935361

Variant Present in the following documents:

• Main text
• fped-10-940294.pdf

View BVdb publication page

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: 5845delC; Q1949Sfs*98

PubMed Link: 31727177

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1219.pdf

View BVdb publication page