Cargando…
Genotype–Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review
2q37 microdeletion/deletion syndrome (2q37DS) is one of the most common subtelomeric deletion disorders, caused by a 2q37 deletion of variable size. The syndrome is characterized by a broad and diverse spectrum of clinical findings: characteristic facial dysmorphism, developmental delay/intellectual...
Autores principales: | Gavril, Eva-Cristiana, Nucă, Irina, Pânzaru, Monica-Cristina, Ivanov, Anca Viorica, Mihai, Cosmin-Teodor, Antoci, Lucian-Mihai, Ciobanu, Cristian-Gabriel, Rusu, Cristina, Popescu, Roxana |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957522/ https://www.ncbi.nlm.nih.gov/pubmed/36833393 http://dx.doi.org/10.3390/genes14020465 |
Ejemplares similares
-
Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome
por: Ciobanu, Cristian-Gabriel, et al.
Publicado: (2023) -
Different Types of Deletions Created by Low-Copy Repeats Sequences Location in 22q11.2 Deletion Syndrome: Genotype–Phenotype Correlation
por: Gavril, Eva-Cristiana, et al.
Publicado: (2022) -
Genetic Polymorphisms in a Familial Hypercholesterolemia Population from North-Eastern Europe
por: Maștaleru, Alexandra, et al.
Publicado: (2022) -
Mitochondrial Dysfunction, Oxidative Stress, and Therapeutic Strategies in Diabetes, Obesity, and Cardiovascular Disease
por: Cojocaru, Karina-Alexandra, et al.
Publicado: (2023) -
Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review
por: Gavril, Eva-Cristiana, et al.
Publicado: (2021)