NSMCE2 / MMS21 structural variant causes chromosome breakage syndrome with primordial dwarfism and severe lung disease.
Primordial dwarfism (PD) is a genetic disorder characterized by severe intrauterine and postnatal growth failure. While some subtypes involve impaired DNA damage responses, the molecular basis of PD remains incompletely defined. We describe two siblings of non-consanguineous Indian-Jewish ancestry with a likely autosom...