Article
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
Human genetics - 1 Feb 2022
Kreienkamp Hans-Jürgen, Wagner Matias, Weigand Heike, McConkie-Rossell Allyn, McDonald Marie, Keren Boris, Mignot Cyril, Gauthier Julie, Soucy Jean-François, Michaud Jacques L, Dumas Meghan, Smith Rosemarie, Löbel Ulrike, Hempel Maja, Kubisch Christian, Denecke Jonas, Campeau Philippe M, Bain Jennifer M, Lessel Davor
Abstract excerpt
Bain type of X-linked syndromic intellectual developmental disorder, caused by pathogenic missense variants in HRNRPH2, was initially described in six female individuals affected by moderate-to-severe neurodevelopmental delay. Although it was initially postulated that the condition would not be compatible with life in males, several affected male individuals harboring pathogenic variants in HNRNPH2 have since...
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