B‐cell immune deficiency in twin sisters expands the phenotype of MOPDI
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DOI: 10.1111/cge.14571
Abstract: Microcephalic osteodysplastic primordial dwarfism type I (MOPDI) is a very rare and severe autosomal recessive disorder characterized by marked intrauterine growth retardation, skeletal dysplasia, microcephaly and brain malformations. MOPDI is caused by biallelic mutations in… read more here.
Keywords: twin sisters; cell; mopdi; immune deficiency ... See more keywords