Open AccessCompound Heterozygous Mutations Involving Splicing Mutations Cause Rothmund–Thomson Syndrome in Two Chinese Families
Author(s) -
Chaolan Pan,
Qing Cao,
Yue Li,
Jia Zhang,
Zhen Zhang,
Yumeng Wang,
Fuying Chen,
Ruhong Cheng,
Xiaoxiao Wang,
Zhirong Yao,
Zengjun Lu,
Ming Li
Publication year - 2021
Publication title -
international journal of dermatology and venereology
Language(s) - English
Resource type - Journals
eISSN - 2641-8746
pISSN - 2096-5540
DOI - 10.1097/jd9.0000000000000160
Subject(s) - genetics , exon , gene , biology , rna splicing , phenotype , mutation , intron , genotype , dna sequencing , genotype phenotype distinction , microbiology and biotechnology , rna