• Issue
    2020
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Case Series
Open Access

Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia

D. Hettiarachchi,  Hetalkumar Panchal,  B. A. P. S. Pathirana,  P. D. Rathnayaka,  A. Padeniya,  P. S. Lai,  V. H. W. Dissanayake, 
  • First Published: 09 December 2020
Case Report
Open Access

A Specific Diplotype H1j/H2 of the MAPT Gene Could Be Responsible for Parkinson’s Disease with Dementia

Imane Smaili,  Imane Hajjaj,  Rachid Razine,  Houyam Tibar,  Ayyoub Salmi,  Naima Bouslam,  Ahmed Moussa,  Wafa Regragui,  Ahmed Bouhouche, 
  • First Published: 04 December 2020
Case Series
Open Access

Cytogenomic Abnormalities in 19 Cases of Salivary Gland Tumors of Parotid Gland Origin

Marie Zerjav,  Autumn DiAdamo,  Brittany Grommisch,  Amato Katherine,  Hongyan Chai,  Gang Peng,  Peining Li, 
  • First Published: 02 December 2020
Case Report
Open Access

Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO Mutation

Misty Ruppert,  John Pyun,  K. V. Chalam,  David Sierpina, 
  • First Published: 02 December 2020
Case Report
Open Access

Genetic Testing Distinguishes Multiple Chondroid Chordomas with Neuraxial Bone Metastases from Multicentric Tumors

Hiroshi Kobayashi,  Masahiro Shin,  Naohiro Makise,  Aya Shinozaki-Ushiku,  Masachika Ikegami,  Yuki Taniguchi,  Yusuke Shinoda,  Shinji Kohsaka,  Tetsuo Ushiku,  Katsutoshi Oda,  Kiyoshi Miyagawa,  Hiroyuki Aburatani,  Hiroyuki Mano,  Sakae Tanaka, 
  • First Published: 29 November 2020
Corrigendum
Open Access

Corrigendum to “Eye Manifestations of Shprintzen–Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review”

Jamie H. Choi,  Rachel Li,  Rachel Gannaway,  Tahnee N. Causey,  Anna Harrison,  Natario L. Couser, 
  • First Published: 16 November 2020

Case Report
Open Access

Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review

Manuela Quiroga-Carrillo,  Cristian Correa-Arrieta,  Fernando Ortiz-Corredor,  Fernando Suarez-Obando, 
  • First Published: 16 October 2020
Case Report
Open Access

Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies

G. N. Cerbino,  L. Abou Assali,  L. S. Varela,  L. Tomassi,  A. Batlle,  V. E. Parera,  M. V. Rossetti, 
  • First Published: 15 October 2020
Case Report
Open Access

Very-Long-Chain Acyl-Co-Enzyme A Dehydrogenase Deficiency Presenting as Rhabdomyolysis: First Case Report from Sri Lanka

Maheshi Wijayabandara,  Champika Gamakaranage,  Dineshani Hettiarachchi, 
  • First Published: 13 October 2020
Case Report
Open Access

Hepatocellular Carcinoma in a 24-Year-Old Female with Beckwith–Wiedemann Syndrome: A Case Report and Review of the Literature

Carolyn G. Ahlers,  Quoc-Huy Trinh,  Martin Montenovo, 
  • First Published: 07 October 2020
Case Report
Open Access

A Novel Mutation of VPS33B Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype

Eleni Agakidou,  Charalampos Agakidis,  Marios Kambouris,  Nicoleta Printza,  Maria Farini,  Elina Vourda,  Spyridon Gerou,  Kosmas Sarafidis, 
  • First Published: 24 September 2020
Case Report
Open Access

An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination

Leia A. Peterman,  Gail H. Vance,  Erin E. Conboy,  Katelynn Anderson,  David D. Weaver, 
  • First Published: 31 August 2020
Case Report
Open Access

Novel Mutations in Pilomatrixoma, CTNNB1 p.s45F, and FGFR2 p.s252L: A Report of Three Cases Diagnosed by Fine-Needle Aspiration Biopsy, with Review of the Literature

Cristina Aparecida Troques da Silveira Mitteldorf,  Rafael Sarlo Vilela,  Melissa Lissae Fugimori,  Carla Daniele de Godoy,  Renata de Almeida Coudry, 
  • First Published: 29 August 2020
Case Report
Open Access

A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period

Kiichi Takahashi,  Hiroyuki Adachi,  Manatomo Toyono,  Masato Ito,  Akie Kato,  Atsuko Noguchi,  Tsutomu Takahashi, 
  • First Published: 29 August 2020
Case Report
Open Access

A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy

Xiafei Dai,  Rong Luo,  Yang Chen,  Chenqing Zheng,  Yibin Tang,  Hongmei Zhang,  Ye Su,  Tao He,  Xiaoping Li, 
  • First Published: 24 August 2020
Case Report
Open Access

Eye Manifestations of Shprintzen–Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review

Jamie H. Choi,  Rachel Li,  Rachel Gannaway,  Tahnee N. Causey,  Anna Harrison,  Natario L. Couser, 
  • First Published: 20 August 2020

Case Report
Open Access

“Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case

Anne-Laure Bonnet,  Kevin Sceosole,  Arabelle Vanderzwalm,  Caroline Silve,  Anne-Margaux Collignon,  Celine Gaucher, 
  • First Published: 04 August 2020
Case Report
Open Access

Managing Sleep and Behavioral Problems in a Preschooler with SATB2-Associated Syndrome

Nihit Kumar,  Yuri A. Zarate, 
  • First Published: 13 July 2020
Case Report
Open Access

Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies

Shahzaib Khattak,  Meryam Jan,  Sara Warsi,  Sohail Khattak, 
  • First Published: 11 July 2020
Case Series
Open Access

Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature

E. Barkovich,  A. L. Gropman, 
  • First Published: 25 April 2020
Case Report
Open Access

Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling

John E. Richter Jr.,  Charitha Vadlamudi,  Sarah K. Macklin,  Ayesha Samreen,  Haytham Helmi,  Daniel Broderick,  Ahmed N. Mohammad,  Stephanie L. Hines,  Jay A. VanGerpen,  Paldeep S. Atwal,  Thomas R. Caulfield, 
  • First Published: 25 January 2020
Case Report
Open Access

Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20

Thiago Corrêa,  Amanda Cristina Venâncio,  Marcial Francis Galera,  Mariluce Riegel, 
  • First Published: 21 January 2020
Case Report
Open Access

Behçet Disease-Like Symptoms with a Novel COPA Mutation

E. Anderson,  J. Hatch,  J. Cardinal,  D. Langguth,  D. Coman, 
  • First Published: 11 January 2020
Case Report
Open Access

Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy

Mohammad M. Al-Qattan,  Zuhair A. Rahbeeni,  Zuhair N. Al-Hassnan,  Abdulaziz Jarman,  Atif Rafique,  Nehal Mahabbat,  Faris A. S. Alsufayan, 
  • First Published: 09 January 2020