Article
DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review.
European journal of human genetics : EJHG - 1 Aug 2025
Kennis Milou G P, Rots Dmitrijs, Bouman Arjan, Ockeloen Charlotte W, Boelen Caroline, Marcelis Carlo L M, de Vries Bert B A, Elting Mariet W, Waisfisz Quinten, Suri Mohnish, Font-Montgomery Esperanza, Peck Dawn S, Donnelly Deirdre E, Rogers R Curtis, Richardson Ruth, Caumes Roseline, Chaumette Boris, Louveau Cécile, Sallevelt Suzanne C E H, Maas Saskia M, Smits Jeroen J, van Haelst Mieke M, Levy Rebecca J, Stewart Helen, Loeys Bart L, Pfundt Rolph, Kleefstra Tjitske, Snijders Blok Lot
Abstract excerpt
DDX3X-related neurodevelopmental disorder is one of the most common monogenic causes of intellectual disability in females, with currently >1000 females diagnosed worldwide. In contrast, reports on affected males with DDX3X variants are scarce. The limited knowledge on this X-linked disorder in males hinders the interpretation of hemizygous DDX3X variants in clinical practice. In this study, we present a new...
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