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Papers in Case Reports in Genetics

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  1. A Novel Pathogenic Frameshift Variant Associated With Holt–Oram Syndrome: A Case ReportCase Reports in Genetics · 2026
  2. A Case of Malan Syndrome With Pulmonary Artery Dilatation due to a Novel Frameshift Variant in Exon 2 of the NFIX GeneCase Reports in Genetics · 2026
  3. A Case of Nonimmune Hydrops Fetalis With a Duct‐Dependent Systemic Circulation and a Novel Mutation of Kabuki SyndromeCase Reports in Genetics · 2026
  4. A Case Highlighting the Importance of Timely Intervention for a Male With AZFb + c MicrodeletionCase Reports in Genetics · 2026
  5. Clinical Heterogeneity of a TP53 Variant in a Consanguineous Omani Family: A Case Report Featuring a Homozygous Pathogenic VariantCase Reports in Genetics · 2026
  6. Prolonged Survival With Homozygous Deletion of Exon 9 in Perlman Syndrome: A Case ReportCase Reports in Genetics · 2026
  7. Complete Androgen Insensitivity Syndrome (CAIS) Genetic Counseling: Navigating Germline Mosaicism ConcernsCase Reports in Genetics · 2026
  8. Camptodactyly and Early‐Onset Scoliosis in Snijders Blok–Campeau SyndromeCase Reports in Genetics · 2026
  9. Novel MYH11 Splice Site Variant Causing Exon Skipping in a Family With Thoracic Aortic Aneurysms and DissectionsCase Reports in Genetics · 2026
  10. Novel Generation‐Skipping Inheritance Pattern of Marfan Syndrome Due to FBN1 Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic CounselingCase Reports in Genetics · 2026
  11. A Rare Case of Concurrent SNRPB Mutation and 22q11.2 Microduplication in a Child With Cerebro‐Costo‐Mandibular SyndromeCase Reports in Genetics · 2026
  12. Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin‐511 in Early NeurodevelopmentCase Reports in Genetics · 2026
  13. First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular SpectrumCase Reports in Genetics · 2026
  14. Hereditary Myopathy With Early Respiratory Failure Associated With an Incidental COL4A5 Variant: A Case ReportCase Reports in Genetics · 2026
  15. The Ketogenic Diet in the Neonatal Intensive Care Setting: The Case of a Preterm Newborn With Mitochondrial DNA Depletion Syndrome Type 13 (MTDPS13)Case Reports in Genetics · 2026
  16. Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of LiteratureCase Reports in Genetics · 2026
  17. Hypokalemic Periodic Paralysis Associated With a Rare CACNA1S Variant (p.Leu1243Val): Expanding the Mutational SpectrumCase Reports in Genetics · 2026
  18. A Rare Finding of Mosaic 45,XX,der(13;21)(q10;q10)[15]/46,XX,r(13)(p11.2q33) Following Abnormal Prenatal Chromosomal Microarray TestingCase Reports in Genetics · 2026
  19. Two Cases of ASXL3 ‐Related Bainbridge–Ropers Syndrome: Clinical and Genetic EvaluationCase Reports in Genetics · 2026
  20. 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 > CCase Reports in Genetics · 2026
  21. Expanding the Progeroid Laminopathy Spectrum: Clinical Variability and Later‐Onset Phenotype in Homozygous LMNA c.1579C>T (p.Arg527Cys) Associated Mandibuloacral DysplasiaCase Reports in Genetics · 2026
  22. From Diagnosis to Disclosure: Navigating Genetic Counseling Dilemmas in BRCA2 ‐Associated Prostate Cancer in the Middle EastCase Reports in Genetics · 2026
  23. ZTTK Syndrome Expanding the Cardiac Phenotype: A Case of Shone’s Complex With a Novel SON Variant and Focused Review of the Cardiac Manifestations in ZTTK SyndromeCase Reports in Genetics · 2026
  24. GRIA3 Duplication at Xq25 in a Young Adult Male With Profound Intellectual Disability and Morbid Obesity: A Case ReportCase Reports in Genetics · 2026
  25. RAPSN‐Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same PositionCase Reports in Genetics · 2025
  26. Mitochondrial Dysfunction in Sickle Cell Trait Carriers With Exertional CollapseCase Reports in Genetics · 2025
  27. An Extremely Preterm Infant With PIK3CA-Related Overgrowth Spectrum (PROS): Alpelisib Treatment and OutcomeCase Reports in Genetics · 2025
  28. Infant Born With Autosomal Recessive Glycogen Storage Disease Type IV due to Complete Maternal Isodisomy of Chromosome 3Case Reports in Genetics · 2025
  29. An Unexpected Case of Somatic Mosaicism of the Dutch p16‐Leiden Founder Variant in the CDKN2A GeneCase Reports in Genetics · 2025
  30. A Novel Case of NOTCH1 Variant and Nonimmune Hydrops Fetalis: A Case ReportCase Reports in Genetics · 2025
  31. Identification of a Mosaic BMPR1A Pathogenic Variant in Juvenile Polyposis Syndrome: A Case Study and Its Impact on Cancer ScreeningCase Reports in Genetics · 2025
  32. Long‐Read Sequencing as a Diagnostic Tool for Primary Ciliary DyskinesiaCase Reports in Genetics · 2025
  33. Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case ReportCase Reports in Genetics · 2025
  34. Paternal UPD (15) With Disease‐Causing Mutation and Small Supernumerary Ring Chromosome 15: A Case ReportCase Reports in Genetics · 2025
  35. Bone Marrow Failure Associated With Short Telomeres and Digenic Variants of Uncertain Significance in Telomere Biology GenesCase Reports in Genetics · 2025
  36. Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual DevelopmentCase Reports in Genetics · 2025
  37. MCT8 Deficiency in Two Brothers With a Novel Deletion Mutation in SLC16A2Case Reports in Genetics · 2025
  38. Optic Nerve Coloboma in a Child With Compound Heterozygous USH2A VariantsCase Reports in Genetics · 2025
  39. Chromosome 1p31.1 Deletion: A Case With Developmental Delay, Hypotonia, Cryptorchidism, Abnormal Oral Frenulum, and Feet DeformityCase Reports in Genetics · 2025
  40. Dual Diagnosis of Fragile X Syndrome and DEPDC5‐Related Disorder Emphasizes DEPDC5’s Role Beyond Familial Epilepsy: A Case Report and Literature ReviewCase Reports in Genetics · 2025
  41. Identification of a Mosaic BMPR1A Pathogenic Variant in Juvenile Polyposis Syndrome: A Case Study and Its Impact on Cancer ScreeningCase Reports in Genetics · 2025
  42. Emanuel Syndrome: A Case Report With Isolated Nuchal Translucency ThickeningCase Reports in Genetics · 2025
  43. Pathogenic Deep Intronic Variant in CNGB3 Identified From Whole‐Genome Sequencing in an Unsolved Case of Patient Affected With AchromatopsiaCase Reports in Genetics · 2025
  44. Kufor–Rakeb Syndrome in a Guatemalan Patient With an ATP13A2 Gene Pathogenic Variant: A Case ReportCase Reports in Genetics · 2025
  45. A Novel NPHP5 Gene Mutation in Three Siblings With Nephronophthisis Without Retinitis Pigmentosa: A Case ReportCase Reports in Genetics · 2025
  46. Novel CLCNKB Mutation in Two Siblings With Classic Bartter SyndromeCase Reports in Genetics · 2025
  47. Novel SIAH1 Frameshift Variant in a Chilean Patient With Buratti–Harel SyndromeCase Reports in Genetics · 2025
  48. Mitochondrial DNA Missense Mutations ChrMT: 8981A > G and ChrMT: 6268C > T Identified in a Caucasian Female with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) Triggered by the Epstein–Barr VirusCase Reports in Genetics · 2024
  49. Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated HyperphosphatasiaCase Reports in Genetics · 2024
  50. Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe PresentationCase Reports in Genetics · 2024