Alessandro Sparaci
Biographic Data
| ID | 8265023 |
|---|---|
| NAME | Alessandro Sparaci |
| GIVEN NAMES | Alessandro |
| FAMILY NAME | Sparaci |
| SIGNATURE | SPARACI A |
| AFFILIATIONS | Bambino Gesù Children's Hospital |
| VERIFIED | No |
| TOTAL WORKS | 1 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 1 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2025 |
| LATEST PUBLICATION YEAR | 2025 |
| H-INDEX | 0 |
Identification of a Novel Nonsense Mutation in the IGSF1 Gene Reveals Sex-Specific Phenotypic Variability Within a Single Family
Background : The immunoglobulin superfamily member 1 ( IGSF1 ) gene encodes for a transmembrane glycoprotein involved in crucial processes such as growth, metabolism, and reproductive function. Loss-of-Function (LOF) mutations in the IGSF1 gene have been reported to cause the X-linked IGSF1 deficiency syndrome, a rare genetic condition that primarily affects males, characterized by hypothyroidism, macroorchidism, delayed puberty, obesity, and inf…
No prominent works on this page.
Identification of a Novel Nonsense Mutation in the IGSF1 Gene Reveals Sex-Specific Phenotypic Variability Within a Single Family
Background : The immunoglobulin superfamily member 1 ( IGSF1 ) gene encodes for a transmembrane glycoprotein involved in crucial processes such as growth, metabolism, and reproductive function. Loss-of-Function (LOF) mutations in the IGSF1 gene have been reported to cause the X-linked IGSF1 deficiency syndrome, a rare genetic condition that primarily affects males, characterized by hypothyroidism, macroorchidism, delayed puberty, obesity, and inf…
Blood disorders and treatments (1 work) · Gene (1 work) · Gene expression (1 work) · Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities (1 work) · Mutation (1 work) · Nonsense (1 work) · Nonsense mutation (1 work) · Nonsense-mediated decay (1 work) · Phenotype (1 work) · Proband (1 work)