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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.
Case Reports in Genetics|December 29, 2025
Rare Presentation of Homozygous SLC20A2 Mutations Causing Intra-Arterial Cerebral Vasculopathy and Stroke in Infancy: Case Report and Review of the LiteratureLaila Baker, Faisal Hadid, Sara Salahaldeen Irshaidat, et al.
Case Reports in Genetics|August 9, 2020
Managing Sleep and Behavioral Problems in a Preschooler with SATB2-Associated SyndromeNihit Kumar, Yuri A Zarate
Case Reports in Genetics|February 5, 2015
Severe psychomotor delay in a severe presentation of cat-eye syndromeGuillaume Jedraszak, Aline Receveur, Joris Andrieux, et al.
Case Reports in Genetics|February 28, 2015
A prenatally ascertained de novo terminal deletion of chromosomal bands 1q43q44 associated with multiple congenital abnormalities in a female fetusCarolina Sismani, Georgia Christopoulou, Angelos Alexandrou, et al.
Case Reports in Genetics|April 3, 2015
Erratum to "Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies"Sun-Mi Cho, Bo Young Hong, Yoonjung Kim, et al.
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