Biagio Didona
Biographic Data
| ID | 8255471 |
|---|---|
| NAME | Biagio Didona |
| GIVEN NAMES | Biagio |
| FAMILY NAME | Didona |
| SIGNATURE | DIDONA B |
| AFFILIATIONS | Istituto Dermopatico dell'Immacolata |
| ORCID | 0000-0001-6635-0490 |
| VERIFIED | Yes |
| TOTAL WORKS | 2 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 2 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2017 |
| LATEST PUBLICATION YEAR | 2024 |
| H-INDEX | 0 |
Broadening the PHIP-Associated Neurodevelopmental Phenotype
The unusual clinical presentation of this novel patient resembles a PTHS-like condition. However, a novel variant in PHIP has been unexpectedly detected, expanding the phenotypic spectrum of CHUJANS. Notably, PTHS (MIM#610954), which is a different ID syndrome caused by heterozygous variants in TCF4 (MIM*610954), is not classically considered in the differential diagnosis of CHUJANS nor has been cited in the previous studies. This could support o…
Dissecting cellulitis
No prominent works on this page.
Dissecting cellulitis
Broadening the PHIP-Associated Neurodevelopmental Phenotype
The unusual clinical presentation of this novel patient resembles a PTHS-like condition. However, a novel variant in PHIP has been unexpectedly detected, expanding the phenotypic spectrum of CHUJANS. Notably, PTHS (MIM#610954), which is a different ID syndrome caused by heterozygous variants in TCF4 (MIM*610954), is not classically considered in the differential diagnosis of CHUJANS nor has been cited in the previous studies. This could support o…
Art (1 work) · Autism Spectrum Disorder Research (1 work) · Biology (1 work) · Educational Practices and Policies (1 work) · Gene (1 work) · Genetics (1 work) · Genetics and Neurodevelopmental Disorders (1 work) · Genomics and Rare Diseases (1 work) · Humanities (1 work) · Immigration and Intercultural Education (1 work)