"Case Rep Genet"[jour] - PMC

Yifei Xu, Yuki Tsurinaga, Tsubasa Matsumoto, Ryuji Muta, Taichi Yano, Hiroshi Sakaida, Sawako Masuda, Koki Ueda, Guofei Feng, Shimpei Gotoh, Satoru Ogawa, Makoto Ikejiri, Kaname Nakatani, Mizuho Nagao, Masaki Tanabe, Kazuhiko Takeuchi

Case Rep Genet. 2024; 2024: 1595717. Published online 2024 Aug 9. doi: 10.1155/2024/1595717

PMCID:: PMC11329306

Article PDF–2.0M

Select item 112689584.

Phenotype-Genotype Discordance and a Case of a Disorder of Sexual Differentiation

Madeline Snipes, Stephanie Stokes, Amy Vidalin, Lee D. Moore, Natalia Schlabritz-Lutsevich, James Maher, III

Case Rep Genet. 2024; 2024: 9936936. Published online 2024 Jul 17. doi: 10.1155/2024/9936936

PMCID:: PMC11268958

Article PDF–242K

Select item 112279445.

A Fatal Case of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Term Infant with Severe High Anion Gap Acidosis and Review of the Literature

Surasak Puvabanditsin, Ian Lee, Natasha Cordero, Keisha Target, Su Young Park, Rajeev Mehta

Case Rep Genet. 2024; 2024: 8099373. Published online 2024 Jun 30. doi: 10.1155/2024/8099373

PMCID:: PMC11227944

Article PDF–241K

Select item 108469236.

Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation

Afia Hasnain, Laura L. Thompson, Nicole L. Hoppman, Karine Hovanes, Jing Liu, Bita Hashemi

Case Rep Genet. 2024; 2024: 6319030. Published online 2024 Jan 30. doi: 10.1155/2024/6319030

PMCID:: PMC10846923

Article PDF–585K

Select item 107761877.

A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder

Daniel Arbide, Nour Elkhateeb, Ewa Goljan, Carolina Perez Gonzalez, Anna Maw, Soo-Mi Park

Case Rep Genet. 2024; 2024: 5906936. Published online 2024 Jan 2. doi: 10.1155/2024/5906936

PMCID:: PMC10776187

Article PDF–692K

Select item 106817728.

A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening

Melissa A. Hicks, Emilie Lalonde, Jessica Zoladz, Bernard Gonik, Salah Ebrahim

Case Rep Genet. 2023; 2023: 9127430. Published online 2023 Nov 20. doi: 10.1155/2023/9127430

PMCID:: PMC10681772

Article PDF–1.0M

Select item 106320589.

Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review

Khaliunaa Bayanbold, Georgianne Younger, Benjamin Darbro, Alpa Sidhu

Case Rep Genet. 2023; 2023: 1692422. Published online 2023 Nov 1. doi: 10.1155/2023/1692422

PMCID:: PMC10632058

Article PDF–654K

Select item 993587910.

Manifestations of Intellectual Disability, Dystonia, and Parkinson's Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup)

Maria Arvio, Jaana Lähdetie, Hannu Koivu, Antti Sohlberg, Eero Pekkonen

Case Rep Genet. 2023; 2023: 3636748. Published online 2023 Feb 9. doi: 10.1155/2023/3636748

PMCID:: PMC9935879

Article PDF–513K

Select item 993586511.

4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay

Yukino Kawanami, Tomoko Horinouchi, Naoya Morisada, Takeshi Kato, Kandai Nozu

Case Rep Genet. 2023; 2023: 4592114. Published online 2023 Feb 9. doi: 10.1155/2023/4592114

PMCID:: PMC9935865

Article PDF–986K

Select item 982275412.

The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease

Mónica Furlano, Elisabet Ars, Anna Matamala, Vicens Brossa, Joan Martí, Maria del Prado-Venegas, Jaume Crespi, Esther Roe, Roser Torra

Case Rep Genet. 2022; 2022: 3208810. Published online 2022 Dec 30. doi: 10.1155/2022/3208810

PMCID:: PMC9822754

Article PDF–303K

Select item 953700913.

Homozygous Autosomal Recessive DIAPH1 Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case

Hossein Esmaeilzadeh, Rafat Noeiaghdam, Leila Johari, Seyed Ali Hosseini, Sayyed Hesamedin Nabavizadeh, Soheila Sadat Alyasin

Case Rep Genet. 2022; 2022: 4142214. Published online 2022 Sep 29. doi: 10.1155/2022/4142214

PMCID:: PMC9537009

Article PDF–379K

Select item 948940314.

BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion

Dinusha Pandithan, Sonja Klebe, Grace McKavanagh, Lesley Rawlings, Sui Yu, Jillian Nicholl, Nicola Poplawski

Case Rep Genet. 2022; 2022: 5503505. Published online 2022 Sep 13. doi: 10.1155/2022/5503505

PMCID:: PMC9489403

Article PDF–826K

Select item 944860415.

An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine

Jiyoung Kim, Angela Pipitone Dempsey, Sun Young Kim, Meral Gunay-Aygun, Hilary J. Vernon

Case Rep Genet. 2022; 2022: 7138435. Published online 2022 Aug 30. doi: 10.1155/2022/7138435

PMCID:: PMC9448604

Article PDF–355K

Select item 936392716.

Case Report of Fibro-Adipose Vascular Anomaly (FAVA) with Activating Somatic PIK3CA Mutation

Jordan H. Driskill, Helena Hwang, Alexandra K. Callan, Dwight Oliver

Case Rep Genet. 2022; 2022: 9016497. Published online 2022 Aug 2. doi: 10.1155/2022/9016497

PMCID:: PMC9363927

Article PDF–1.2M

Select item 914823017.

Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant

Rhea Camille R. Yumul, Mary Anne D. Chiong

Case Rep Genet. 2022; 2022: 3388879. Published online 2022 May 21. doi: 10.1155/2022/3388879

PMCID:: PMC9148230

Article PDF–1.7M

Select item 913001718.

Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding

Julie Fischer, Luis Rohena

Case Rep Genet. 2022; 2022: 7510079. Published online 2022 May 17. doi: 10.1155/2022/7510079

PMCID:: PMC9130017

Article PDF–978K

Select item 905621619.

Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad

Shir Wey Gloria Pang, Hencher Han Chih Lee, Carol Ng Wing kei, Eric Kin Cheong Yau, Joannie Hui

Case Rep Genet. 2022; 2022: 4153357. Published online 2022 Apr 23. doi: 10.1155/2022/4153357

PMCID:: PMC9056216

Article PDF–2.2M

Select item 901819920.

Cytogenomic Characterization of Giant Ring or Rod Marker Chromosome in Four Cases of Well-Differentiated and Dedifferentiated Liposarcoma

Hongyan Chai, Fang Xu, Autumn DiAdamo, Brittany Grommisch, Huanzhi Mao, Peining Li

Case Rep Genet. 2022; 2022: 6341207. Published online 2022 Apr 12. doi: 10.1155/2022/6341207

PMCID:: PMC9018199

Article PDF–824K

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