Broadening the PHIP-Associated Neurodevelopmental Phenotype
Bibliographic Data
| ID | 15713866 |
|---|---|
| Authors | Giulia Pascolini (0000-0002-2440-7441, Istituto Dermopatico dell'Immacolata, corresponding author), Giovanni Luca Scaglione (0000-0001-5622-7843, Istituto Dermopatico dell'Immacolata), Balasubramanian Chandramouli (0000-0002-6837-4709, Cineca), Daniele Castiglia (0000-0003-3501-6742, Istituto Dermopatico dell'Immacolata), Giovanni Di Zenzo (0000-0001-6106-599X, Istituto Dermopatico dell'Immacolata), Biagio Didona (0000-0001-6635-0490, Istituto Dermopatico dell'Immacolata) |
| Year | 2024 |
| Volume | 11 |
| Issue | 11 |
| Pages | 1395-1395 |
| Publication date | 2024-11-17 |
| Open Access | Yes |
| Type | ARTICLE |
| Venue | Children (JOURNAL) |
| Journal identifiers | ISSN: 2227-9067 • E-ISSN: 2227-9067 |
| Publisher | Multidisciplinary Digital Publishing Institute (PUBLISHER • CH) |
| DOI | 10.3390/children11111395 |
| PMID | 39594970 |
| OpenAlex | W4404484287 |
| Language | EN |
| References cited | 22 |
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 other complex diagnoses and invite further patients' descriptions
Biology · Gene · Phenotype · Autism Spectrum Disorder Research · Genetics and Neurodevelopmental Disorders · Genomics and Rare Diseases · Genetics
| Highly cited | No |
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