Huifen Mei
Biographic Data
| ID | 7972818 |
|---|---|
| NAME | Huifen Mei |
| GIVEN NAMES | Huifen |
| FAMILY NAME | Mei |
| SIGNATURE | MEI H |
| AFFILIATIONS | Guangzhou Medical University |
| VERIFIED | No |
| TOTAL WORKS | 1 |
| TOTAL CITATIONS | 0 |
| AUTHOR COUNT | 1 |
| EDITOR COUNT | 0 |
| FIRST PUBLICATION YEAR | 2026 |
| LATEST PUBLICATION YEAR | 2026 |
| H-INDEX | 0 |
Identification of a Chinese patient with MTSS2-causing intellectual disability by WES reanalysis: A case report
Intellectual developmental disorder with ocular anomalies and distinctive facial features (IDDOF) is an extremely rare disease caused by a heterozygous pathogenic variant in the MTSS2 gene with an autosomal dominant inheritance pattern. To date, only 10 patients with IDDOF and one pathogenic variant in the MTSS2 gene have been reported. Here, we present a new Chinese patient with IDDOF, who is the 11th patient worldwide and the second case in Chi…
No prominent works on this page.
Identification of a Chinese patient with MTSS2-causing intellectual disability by WES reanalysis: A case report
Intellectual developmental disorder with ocular anomalies and distinctive facial features (IDDOF) is an extremely rare disease caused by a heterozygous pathogenic variant in the MTSS2 gene with an autosomal dominant inheritance pattern. To date, only 10 patients with IDDOF and one pathogenic variant in the MTSS2 gene have been reported. Here, we present a new Chinese patient with IDDOF, who is the 11th patient worldwide and the second case in Chi…
Disease (1 works) · Exome sequencing (1 works) · Genomic variations and chromosomal abnormalities (1 works) · Genomics and Rare Diseases (1 works) · Identification (biology (1 works) · Intellectual disability (1 works) · Ocular Disorders and Treatments (1 works) · Proband (1 works) · Psychomotor learning (1 works) · Psychomotor retardation (1 works)