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Case Reports in Genetics|September 2, 2026
A Rare Finding of Mosaic 45,XX,der(13;21)(q10;q10)[15]/46,XX,r(13)(p11.2q33) Following Abnormal Prenatal Chromosomal Microarray TestingKatherine M Haines, Deborah M Hazard, Billie Carstens, et al.Case Reports in Genetics|September 13, 2026
A Case Report of a Novel Myelin Protein Zero (MPZ) Pathogenic Variant in Charcot-Marie-Tooth Disease Combined With Type 2 DiabetesLu Xia, Liyan Cai, Xin Chen, et al.Case Reports in Genetics|September 23, 2026
GRIA3 Duplication at Xq25 in a Young Adult Male With Profound Intellectual Disability and Morbid Obesity: A Case ReportShuichi YatsugaCase Reports in Genetics|September 25, 2026
Exome Sequencing and MRI in Prenatal Diagnosis: A Case Report of Joubert Syndrome in ColombiaWalter Annicchiarico, Leidy Ximena Peña-Pardo, Andrea Muñiz Redondo, et al.Case Reports in Genetics|September 9, 2022
An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and PyridoxineJiyoung Kim, Angela Pipitone Dempsey, Sun Young Kim, et al.Case Reports in Genetics|November 7, 2015
Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln)Nivedita U Jerath, Tiffany Grider, Michael E ShyCase Reports in Genetics|June 14, 2013
Recombinant chromosome 4 from a familial pericentric inversion: prenatal and adulthood wolf-hirschhorn phenotypesFrancesca Malvestiti, Francesco Benedicenti, Simona De Toffol, et al.Case Reports in Genetics|January 23, 2016
Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>THolli M Drendel, Jason E Pike, Katherine Schumacher, et al.Case Reports in Genetics|November 18, 2025
Identification of a Mosaic BMPR1A Pathogenic Variant in Juvenile Polyposis Syndrome: A Case Study and Its Impact on Cancer ScreeningKara Rogen, Lisa Boardman, Megan BirdCase Reports in Genetics|October 16, 2025
Mitochondrial Dysfunction in Sickle Cell Trait Carriers With Exertional CollapseKristen A Cofer, Liam Friel, Mingqiang Ren, et al.Pageof 35