Nipith Charoenngam
Biographic Data
| ID | 5465278 |
|---|---|
| NAME | Nipith Charoenngam |
| GIVEN NAMES | Nipith |
| FAMILY NAME | Charoenngam |
| SIGNATURE | CHAROENNGAM N |
| AFFILIATIONS | Siriraj Hospital |
| ORCID | 0000-0002-6501-6180 |
| VERIFIED | Yes |
| TOTAL WORKS | 2 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 2 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2021 |
| LATEST PUBLICATION YEAR | 2021 |
| H-INDEX | 0 |
Fetal Fractures in an Infant with Maternal Ehlers-Danlos Syndrome, CCDC134 Pathogenic Mutation and a Negative Genetic Test for Osteogenesis Imperfecta
Intrauterine fractures are a rare clinical finding caused by abnormal early-life osteogenesis. In this case report, we reported a male infant with twenty-three intrauterine/fetal fractures resembling osteogenesis imperfecta and tested negative for COL1A1 and COL1A2 mutations. The infant's mother had Ehlers-Danlos syndrome, hypermobility type. Whole-genome sequencing revealed that there were no pathologic mutations previously documented to be asso…
Reply to S Minisola et al
No prominent works on this page.
Fetal Fractures in an Infant with Maternal Ehlers-Danlos Syndrome, CCDC134 Pathogenic Mutation and a Negative Genetic Test for Osteogenesis Imperfecta
Intrauterine fractures are a rare clinical finding caused by abnormal early-life osteogenesis. In this case report, we reported a male infant with twenty-three intrauterine/fetal fractures resembling osteogenesis imperfecta and tested negative for COL1A1 and COL1A2 mutations. The infant's mother had Ehlers-Danlos syndrome, hypermobility type. Whole-genome sequencing revealed that there were no pathologic mutations previously documented to be asso…
Reply to S Minisola et al
Biology (1 work) · Bone fractures and treatments (1 work) · Bone health and treatments (1 work) · Connective tissue disorders research (1 work) · Ehlers–Danlos syndrome (1 work) · Fetus (1 work) · Gene (1 work) · Genetic counseling (1 work) · Genetic testing (1 work) · Genetics (1 work)