Biagio Didona
Datos Biográficos
| ID | 8255471 |
|---|---|
| NOMBRE | Biagio Didona |
| NOMBRES | Biagio |
| APELLIDO | Didona |
| FIRMA | DIDONA B |
| AFILIACIONES | Istituto Dermopatico dell'Immacolata |
| ORCID | 0000-0001-6635-0490 |
| VERIFICADO | Sí |
| TOTAL DE OBRAS | 2 |
| TOTAL DE CITAS | 0 |
| OBRAS COMO AUTOR | 2 |
| OBRAS COMO EDITOR | 0 |
| PRIMER AÑO DE PUBLICACIÓN | 2017 |
| AÑO MÁS RECIENTE DE PUBLICACIÓN | 2024 |
| ÍNDICE H | 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
Sin obras prominentes en esta página.
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…
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