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Open access Sep 2026

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...

Tomer Poleg, N. Hadar, V. Dolgin et al. · 0 citations
Open access Aug 2026

Xq26.2 Contiguous Gene Deletion Involving FRMD7 and IGSF1: Highly Penetrant Infantile Nystagmus with Variable Endocrine Involvement

These findings further delineate the clinical spectrum of Xq26.1-q26.2 deletions, highlight marked intrafamilial variability, and support structural variant analysis in unexplained IIN and/or endocrine abnormalities.

Tomer Poleg, L. Carmon, Elad Brav et al. · 0 citations

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