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A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder.

Clinical Dysmorphology, 2020
Introduction De novo pathogenic missense variants in DHX30 have been reported to cause a neurodevelopmental disorder (MIM # 617804). DHX30-related disorder has been described in 12 unrelated individuals in the current literature (Lessel et al., 2017 ...
Laura A. Cross, K. McWalter, Jennifer Keller-Ramey, Lindsay B. Henderson, Shivarajan M Amudhavalli   +4 more
semanticscholar   +3 more sources

Early Bilateral Gonadoblastoma Associated With 45,X/46,XY Mosaicism: The Spectrum of Undifferentiated Gonadal Tissue and Gonadoblastoma in the First Months of Life

Pediatric and Developmental Pathology, 2019
45,X/46,XY mosaicism is one of a heterogenous group of congenital conditions known as differences (disorders) of sex development (DSD) that results in abnormal development of internal and external genitalia.
L. Berklite, S. Witchel, S. Yatsenko, F. Schneck, M. Reyes-Múgica   +4 more
semanticscholar   +3 more sources

Complexities of gonadal mosaicism

Pathology
Krystle Standen, Rebecca Walsh, George Elaksis, Bianca Rodgrigues   +3 more
semanticscholar   +2 more sources