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Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.
A rare variant of USP9X associated with female-restricted X-linked syndromic intellectual disability.
Some novel causes and clinical characteristics of reversible splenial lesion syndrome- found in children.
Pituitary Gland Duplication Syndrome: An International Imaging Analysis.
Agenesis of Corpus Callosum, Malformations of Cortical Development, Duodenal Atresia and Fetal Growth Restriction: Prenatal Markers for Zhu-Tokita-Takenouchi-Kim Syndrome.