Cross-sectional, quantitative analysis of motor function in females with HNRNPH2-related disorder
R Salazar, S Beenders, NM LaMarca… - Research in …, 2021 - Elsevier
Aims To describe the gross motor function of individuals with HNRNPH2-related disorder
(OMIM 300986, Mental Retardation, X-linked, Syndrome, Bain Type; MRXSB) and determine
the associations between clinician-measured motor function and caregiver-reported mobility
scores. Methods Developmental histories of 17 female participants with HNRNPH2-related
disorder (mean age 11.2 years, range 2.7–37.1 years) with various genotypes within and
adjacent to the nuclear localization sequence (NLS) were analyzed. Participants performed …
(OMIM 300986, Mental Retardation, X-linked, Syndrome, Bain Type; MRXSB) and determine
the associations between clinician-measured motor function and caregiver-reported mobility
scores. Methods Developmental histories of 17 female participants with HNRNPH2-related
disorder (mean age 11.2 years, range 2.7–37.1 years) with various genotypes within and
adjacent to the nuclear localization sequence (NLS) were analyzed. Participants performed …
