Article
Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II.
International journal of molecular sciences - 31 Jul 2023
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
Abstract excerpt
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 insulin resistance. Autosomal recessive biallelic loss-of-function genomic variants in the centrosomal pericentrin...
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