Author

Elad Brav

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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. · Genes · 0 citations