Daniele Castiglia
Biographic Data
| ID | 8255469 |
|---|---|
| NAME | Daniele Castiglia |
| GIVEN NAMES | Daniele |
| FAMILY NAME | Castiglia |
| SIGNATURE | CASTIGLIA D |
| AFFILIATIONS | Istituto Dermopatico dell'Immacolata |
| ORCID | 0000-0003-3501-6742 |
| VERIFIED | Yes |
| TOTAL WORKS | 1 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 1 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2024 |
| 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…
No prominent works on this page.
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…
Autism Spectrum Disorder Research (1 work) · Biology (1 work) · Gene (1 work) · Genetics (1 work) · Genetics and Neurodevelopmental Disorders (1 work) · Genomics and Rare Diseases (1 work) · Phenotype (1 work)