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Case Reports in Genetics|July 8, 2024
A Fatal Case of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Term Infant with Severe High Anion Gap Acidosis and Review of the LiteratureSurasak Puvabanditsin, Ian Lee, Natasha Cordero, et al.
Case Reports in Genetics|April 1, 2024
Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated HyperphosphatasiaOsama Obaid, Reem Batawi, Heba Alqurashi, et al.
Case Reports in Genetics|January 29, 2024
Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia SyndromeKyriaki Papadopoulou-Legbelou, Maria Ntoumpara, Maria Kavga, et al.
Case Reports in Genetics|August 7, 2024
Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case AnalysisFiona Whitaker, Alvaro Serrano
Case Reports in Genetics|July 25, 2024
Phenotype-Genotype Discordance and a Case of a Disorder of Sexual DifferentiationMadeline Snipes, Stephanie Stokes, Amy Vidalin, et al.
Case Reports in Genetics|May 7, 2025
A Novel NPHP5 Gene Mutation in Three Siblings With Nephronophthisis Without Retinitis Pigmentosa: A Case ReportRandah Abdullah Dahlan, Roaa Hani Fairoozy
Case Reports in Genetics|April 14, 2025
Optic Nerve Coloboma in a Child With Compound Heterozygous USH2A VariantsEmily S Levine, Nidhi D Shah, Erin M Salcone
Case Reports in Genetics|December 24, 2025
MCT8 Deficiency in Two Brothers With a Novel Deletion Mutation in SLC16A2Andrea A Arcari, María Eugenia Rodríguez, Romina Armando, et al.
Case Reports in Genetics|September 5, 2022
Rapid Progression of Heterotopic Ossification in Severe Variant of Fibrodysplasia Ossificans Progressiva with p.Arg258Gly in ACVR1: A Case Report and Review of Clinical PhenotypesKosei Hasegawa, Hiroyuki Tanaka, Natsuko Futagawa, et al.
Case Reports in Genetics|June 18, 2026
A Case of Malan Syndrome With Pulmonary Artery Dilatation due to a Novel Frameshift Variant in Exon 2 of the NFIX GeneToshihiko Mori, Mayu Hirano, Shigeto Fuse, et al.
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