DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 02 · Volume 10 · June 2021 DOI: 10.1055/s-011-50847

Original Article

  • 085
    Gowda, Vykuntaraju K.; Vegda, Hemadri; Nagarajan, Balamurugan B.; Shivappa, Sanjay K.:

    Clinical Profile and Outcome of Indian Children with Aromatic L-Amino Acid Decarboxylase Deficiency: A primary CSF Neurotransmitter Disorder Mimicking as Dyskinetic Cerebral Palsy

  • 092
    Floriani, Maiara A.; Glaeser, Andressa B.; Dorfman, Luiza E.; Agnes, Grasiela; Rosa, Rafael F. M.; Zen, Paulo R. G.:

    GATA4 Deletions Associated with Congenital Heart Diseases in South Brazil

  • 098
    Bakutenko, Ivan Y.; Hileuskaya, Irena D.; Nikitchenko, Natalia V.; Sechko, Elena V.; Tchitchko, Alexej M.; Batyan, Galina M.; Sukalo, Alexander V.; Ryabokon, Nadezhda I.:

    Polymorphism of Proteasomal Genes Can Be a Risk Factor for Systemic Autoimmune Diseases in Children

  • 105
    Holdar, Sinan; Rahbeeni, Zuhair; Ramzan, Khushnooda; Imtiaz, Faiqa:

    Hepatic Manifestations of 3-Hydroxy-3-Methylglutaryl-Coenzyme-A Lyase Deficiency in Saudi Patients: Experience of a Tertiary Care Center

  • 111
    Bhardwaj, Naveen Kumar; Gowda, Vykuntaraju K.; Sardesai, Ashwin Vivek:

    Alternating Hemiplegia of Childhood: A Series of Genetically Confirmed Four Cases from Southern India with Review of Published Literature

    Video available
  • 116
    Dahpy, Marwa A.; Saleem, Tahia H.; El-Asheer, Osama M.; ELrasoul, Ahmed Abd; Abo Elgeit, Amir M.:

    Clinical, Biochemical, Molecular, and Therapeutic Analysis of Maple Syrup Urine Disease in Upper Egypt

    • Case Report

  • 126
    Kops, Samantha A.; Kylat, Ranjit I.; Bhatia, Shanti; Seckeler, Michael D.; Barber, Brent J.; Bader, Mohammad Y.:

    Genetic Characterization of a Model Ciliopathy: Bardet–Biedl Syndrome

  • 131
    Afifi, Hanan H.; El-Kamah, Ghada Y.; Kamel, Alaa K.; Abd Allah, Sally G.; Hammad, Sayda; Sayed-Ahmed, Mohammed M.; Hussein, Shymaa H.; Mohamed, Amal M.:

    Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant

  • 139
    García-Aznar, José María; Ramírez, Noelia; De Uña, David; Santiago, Elisa; Monserrat, Lorenzo:

    Whole Exome Sequencing Provides the Correct Diagnosis in a Case of Osteopathia Striata with Cranial Sclerosis: Case Report of a Novel Frameshift Mutation in AMER1

    Supplementary Material (PDF)
  • 147
    Gogou, Maria; Pavlou, Evangelos; Kimiskidis, Vasilios; Kouskouras, Konstantinos; Pavlidou, Efterpi; Papadopoulos, Theophanis; Haidopoulou, Katerina; Fidani, Liana:

    Novel Mutations Involved in Charcot-Marie-Tooth 4C and Intrafamilial Variability: Let's Not Miss the Forest for the Trees

  • 152
    Kiss, Edgar E.; Chandran, Neethu; Alex, Gijo; Olomu, Patrick:

    Anesthetic Challenges of an Adolescent Patient with Epidermolysis Bullosa and Gitelman's Syndrome Undergoing Posterior Spinal Fusion Surgery

  • 156
    Vyas, Varuna; K., Deepthi; Singh, Kuldeep:

    A Case of Neonatal Diabetes Mellitus Due to INS Gene Mutation with Maternal Mosaicism and Atypical Presentation

  • 159
    Kalmár, Tibor; Szakszon, Katalin; Maróti, Zoltán; Zimmermann, Alíz; Máté, Adrienn; Zombor, Melinda; Bereczki, Csaba; Sztriha, László:

    A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia

  • 164
    Marcilla Vázquez, Carlos; Carrascosa Romero, María del Carmen; Martínez Gutiérrez, Andrés; Baquero Cano, María; Alfaro Ponce, Blanca; Dabad Moreno, María Jesús:

    A Novel c.968C > T homozygous Mutation in the Polynucleotide Kinase 3′ − Phosphatase Gene Related to the Syndrome of Microcephaly, Seizures, and Developmental Delay