The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

Clinical and molecular analysis of the KDM6B-related neurodevelopmental disorder highlights inaccuracies in its current OMIM definition and demonstrates the critical importance of international collaboration, sharing of clinical data, and rigorous functional analysis of genetic variants for an unbiased, accurate, and comprehensive definition of rare genetic disorders.

Source: The American Journal of Human Genetics - May 16, 2023 Category: Genetics & Stem Cells Authors: Dmitrijs Rots, Taryn E. Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Rolph Pfundt, Bert B.A. de Vries, Richard H. van Jaarsveld, Saskia M.J. Hopman, Ellen van Binsbergen, Irene Valenzuela, Maja Hempel, Tatjana Bierhals, Fanny Kort üm, Francois Le Tags: Article Source Type: research