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Case Reports in Genetics|November 30, 2019
Two Novel Variants in the ATRX Gene Associated with Variable PhenotypesD Hettiarachchi, B A P S Pathirana, P J Kumarasiri, et al.
Case Reports in Genetics|January 25, 2019
T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the LiteratureKwo Wei David Ho, Nivedita U Jerath
Case Reports in Genetics|January 20, 2023
A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1Elizaveta Makarova, Nicole R Legro, Ermal Aliu
Case Reports in Genetics|March 21, 2014
Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11Vassos Neocleous, Panayiotis K Yiallouros, George A Tanteles, et al.
Case Reports in Genetics|March 21, 2014
A case of 17q21.31 microduplication and 7q31.33 microdeletion, associated with developmental delay, microcephaly, and mild dysmorphic featuresAdrian Mc Cormack, Juliet Taylor, Leah Te Weehi, et al.
Case Reports in Genetics|March 25, 2014
A Paternally Inherited BRCA1 Mutation Associated with an Unusual Aggressive Clinical PhenotypeFlorentia Fostira, Nikolaos Tsoukalas, Irene Konstantopoulou, et al.
Case Reports in Genetics|March 5, 2014
An active isodicentric x chromosome in a case of refractory anaemia with ring sideroblasts associated with marked thrombocytosisRosario M Morales Camacho, Javier Sanchez, Irene Marcos Luque, et al.
Case Reports in Genetics|February 17, 2017
Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the LiteratureCarlos Sánchez-Montenegro, Alejandra Vilanova-Sánchez, Saturnino Barrena-Delfa, et al.
Case Reports in Genetics|April 30, 2015
Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic FibrosisRossana Molinario, Sara Palumbo, Paola Concolino, et al.
Case Reports in Genetics|September 5, 2025
Infant Born With Autosomal Recessive Glycogen Storage Disease Type IV due to Complete Maternal Isodisomy of Chromosome 3Sigrid Skovby Olsen, Anja Ernst, Pia Sønderby Christensen, et al.
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