Biagio Didona
Dados Biográficos
| ID | 8255471 |
|---|---|
| NOME | Biagio Didona |
| PRENOMES | Biagio |
| SOBRENOME | Didona |
| ASSINATURA | DIDONA B |
| AFILIAÇÕES | Istituto Dermopatico dell'Immacolata |
| ORCID | 0000-0001-6635-0490 |
| VERIFICADO | Sim |
| TOTAL DE OBRAS | 2 |
| TOTAL DE CITAÇÕES | 0 |
| OBRAS COMO AUTOR | 2 |
| OBRAS COMO EDITOR | 0 |
| PRIMEIRO ANO DE PUBLICAÇÃO | 2017 |
| ANO MAIS RECENTE DE PUBLICAÇÃO | 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
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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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