- Article
Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II
- Flaviana Marzano,
- Matteo Chiara,
- Arianna Consiglio,
- Gabriele D’Amato,
- Mattia Gentile,
- Valentina Mirabelli,
- Maria Piane,
- Camilla Savio,
- Marco Fabiani and
- Domenica D’Elia
- + 6 authors
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...