Novel Compound Heterozygous RECQL4 Pathogenic Variants and Associated Phenotypes in a Chinese Patient With Rothmund-Thomson Syndrome: Case Report and Literature Review.
Overview & Synopsis
Open access biomedical research article published in Mol Genet Genomic Med.
Indexed from repository: PubMed Central
(
pmc.ncbi.nlm.nih.gov)
Keyboard Shortcuts:
← / → for pages • + / - for zoom • 0 to fit width
Powered by Mozilla PDF.js v3.11
Document Information
| Document Title | Novel Compound Heterozygous RECQL4 Pathogenic Variants and Associated Phenotypes in a Chinese Patient With Rothmund-Thomson Syndrome: Case Report and Literature Review. |
|---|---|
| Author / Organization | Wang Y, Li L, Zheng C, Li M, Yu Q |
| Subject & Discipline | Mol Genet Genomic Med |
| Categories | Medicine & Health |
| License / Rights | Open Access / Creative Commons |
| Resource Verification | Listed PDF (Verification Pending) |
| Original Host Website |
PubMed Central
(pmc.ncbi.nlm.nih.gov)
|
| File Format | application/pdf (Portable Document Format) |
| Language | EN |
| Catalog ID | DOC-60905 |
| Original Source Link | Visit Source Page on pmc.ncbi.nlm.nih.gov » |