Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II

Microcephalic Osteodysplastic Primordial Dwarfism type II (MOPDII) represents the most common form of primordial dwarfism. MOPD clinical features include severe prenatal and postnatal growth retardation, postnatal severe microcephaly, hypotonia, and an increased risk for cerebrovascular disease and...

Descripción completa

Detalles Bibliográficos
Autores principales: Marzano, Flaviana, Chiara, Matteo, Consiglio, Arianna, D’Amato, Gabriele, Gentile, Mattia, Mirabelli, Valentina, Piane, Maria, Savio, Camilla, Fabiani, Marco, D’Elia, Domenica, Sbisà, Elisabetta, Scarano, Gioacchino, Lonardo, Fortunato, Tullo, Apollonia, Pesole, Graziano, Faienza, Maria Felicia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10418986/
https://www.ncbi.nlm.nih.gov/pubmed/37569667
http://dx.doi.org/10.3390/ijms241512291

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10418986/
https://www.ncbi.nlm.nih.gov/pubmed/37569667
http://dx.doi.org/10.3390/ijms241512291

Ejemplares similares