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Case Reports in Genetics|April 9, 2014
Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic AneurysmKristi K Fitzgerald, Abdul Majeed Bhat, Katrina Conard, et al.
Case Reports in Genetics|May 26, 2018
Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery AneurysmAhmed Mohammad, Haytham Helmi, Paldeep S Atwal
Case Reports in Genetics|January 6, 2017
An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe MicrocephalyTrupti Kale, Melissa Philip
Case Reports in Genetics|March 4, 2014
First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation CarrierAlexandre Rouen, Capucine Hyon, Richard Balet, et al.
Case Reports in Genetics|March 21, 2014
Monosomy 21 seen in live born is unlikely to represent true monosomy 21: a case report and review of the literatureTrent Burgess, Lilian Downie, Mark D Pertile, et al.
Case Reports in Genetics|April 21, 2015
Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with AutismVeronica Goitia, Marcial Oquendo, Robert Stratton
Case Reports in Genetics|February 12, 2026
First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular SpectrumSupitcha Thamissarakul, Teeraphorn Boonswang, Sethapong Lertsakulbunlue, et al.
Case Reports in Genetics|February 2, 2026
Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of LiteratureZakia Abdelhamed, Daniel Dykas, Autumn DiAdamo, et al.
Case Reports in Genetics|February 4, 2026
The Ketogenic Diet in the Neonatal Intensive Care Setting: The Case of a Preterm Newborn With Mitochondrial DNA Depletion Syndrome Type 13 (MTDPS13)Gabriele D'Amato, Mattia Gentile, Rossella Carella, et al.
Case Reports in Genetics|January 12, 2026
Phenotypic Spectrum of Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS) in Denmark: A Case Series Characterizing the First Danish Families With the APC Promotor 1B Variant c.-191T > CP A Skat-Rørdam, A M Jelsig, J G Karstensen, et al.
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