DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 03 · Volume 12 · September 2023 DOI: 10.1055/s-013-58060

Editorial

  • 185
    Çaksen, Hüseyin:

    Retracted Article: A Brief View of The Prophet Ayyub's (Alayhi As-Salam) Disease: Was It Job's Syndrome?

    • Review Article

  • 187
    Lubinsky, Mark:

    Genesis of a Fact: Tay-Sachs Disease as a “Simple Recessive”

  • 193
    Akkuş, Nejmiye; Duman, Tuğba Akın:

    First Clinical Report of Two RAB3GAP1 Pathogenic Variant in Warburg Micro Syndrome

    • Original Article

  • 199
    Gowda, Vykuntaraju K.; Srinivas, Sahana M.; Gupta, Priya; Srinivasan, Varunvenkat M.; Shivappa, Sanjay K.; Vishwanathan, Gurudatta B.:

    Infantile Systemic Hyalinosis Presenting as Pseudo-Paralysis in Infancy: Study of Six Cases

  • 206
    Blake, Bianca; Brady, Lauren I.; Rouse, Nicholas A.; Nagy, Peter; Tarnopolsky, Mark A.:

    The Efficacy of Whole Genome Sequencing and RNA-Seq in the Diagnosis of Whole Exome Sequencing Negative Patients with Complex Neurological Phenotypes

    Supplementary Material (XLS)
  • 213
    Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Jetha, Kapil; Sugumar, Kiruthiga; Bhat, Meenakshi; Shivappa, Sanjay K.; Bhat, Maya; Christopher, Rita:

    Case Series of Ethylmalonic Encephalopathy from Southern India

    • Case Report

  • 219
    Parravicini, Stefano; Pasca, Ludovica; Zanaboni, Martina Paola; Varesio, Costanza; Rognone, Elisa; Totaro, Martina; Gana, Simone; Rossi, Elena; De Giorgis, Valentina:

    Electroclinical Improvement in a Patient with Ring Chromosome 20 Syndrome Treated with Zonisamide: A Case Report

    Supplementary Material (PDF)

    • Case-Based Review

  • 224
    Mirza, Nida; Upadhyaya, Sundeep; Mehta, Sagar; Malhotra, Smita; Sibal, Anupam:

    Esophageal Stricture and Dermal Pathology Related to Compound Heterozygous Mutations in the TNXB Gene

  • 227
    Rivera-Sepulveda, Andrea; Colón-Fontánez, Francisco; López, Maricarmen; Puig-Ramos, Gilberto:

    Deficiency of Interleukin-1 Receptor Antagonist: New Genetic Autoinflammatory Disease as a Diagnostic Challenge for Pediatricians

  • 233
    Kapoor, Ravi; Thakur, Seema; Kapoor, Aakar; Kapoor, Sunita; Kalra, Apurva; Kapoor, Aakriti:

    Neu–Laxova's Syndrome: A Case Report of a Fetus with Novel Mutation in PHGDH Gene and a Literature Review

    • Case Based Review

  • 237
    Cervera-Gaviria, Marivi; Enterría-Rosales, Julia; Juárez-Vignon-Whaley, Juan José; García-Sánchez, Julián; Treviño-Velasco, Rodrigo; Cervera-Gaviria, Jaime:

    Novel Radiological Brain Anomalies in a Patient with Congenital Muscular Dystrophy due to FKRP Mexican Founder Mutation c.1387A > G: Review of the Literature

  • 242
    Gunes, Sevinc Odabasi; Calisici, Erhan; Arslan, Mutluay; Akin, Onur; Karagol, Belma Saygili:

    Transient Neonatal Diabetes Mellitus and Seizure with an Unknown Etiology

  • 246
    Lin, Hong T.; Gupta, Anita; Bove, Kevin E.; Szabo, Sara; Xu, Fang; Krentz, Anthony; Shillington, Amelle L.:

    Novel Pathogenic DNAH5 Variants in Primary Ciliary Dyskinesia: Association with Visceral Heterotaxia and Neonatal Cholestasis

    Video available
  • 254
    Palma Milla, Carmen; Patricia, Pérez Mohand; Lezana, José M.; Cruz, Jaime; Quesada, Juan F.; Vila, Sara; Álvarez-Mora, Isabel; Arteche-López, Ana; Gómez-Manjón, Irene; Sánchez, M. Teresa; Gómez-Rodríguez, Maria José; Sánchez, Jaime; Moreno-García, Marta:

    A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome

  • 258
    Carvalho, Andreia; Costa, Carmen; Pinto, Miguel; Taipa, Ricardo; Gonçalves, Ana; Oliveira, Márcia E.; Ferreira, Sofia; Ribeiro, Joana Afonso:

    X-Linked Myotubular Myopathy: A Novel Mutation Expanding the Genotypic Spectrum of a Phenotypically Heterogeneous Myopathy