Article
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature.
American journal of medical genetics. Part A - 1 Aug 2026
Nisbet Alex F, Adams Sylvie A, Katz Zoe S, Delagrammatikas Christal G, Izumi Kosuke, Sigal Winifred, Ventarola Kim, Zackai Elaine H, Reid Julia E, Liu Grant T, Kalish Jennifer M
Abstract excerpt
Malan syndrome is an ultra-rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients. This report further establishes the common characteristics of Malan syndrome, expands the ophthalmologic features and...
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