DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 02 · Volume 09 · June 2020 DOI: 10.1055/s-010-48376

Review Article

  • 077
    Kostara, Maria; Chondrou, Vasiliki; Sgourou, Argyro; Douros, Konstantinos; Tsabouri, Sophia:

    HLA Polymorphisms and Food Allergy Predisposition

    • Original Article

  • 087
    Singh, Ankur; Prasad, Rajniti; Mishra, Om Prakash:

    Spectrum of Lysosomal Storage Disorders at Tertiary Centre: Retrospective Case-Record Analysis

  • 093
    Maines, Evelina; Tadiotto, Elisa; Morandi, Grazia; Fedrizzi, Michela; Gaudino, Rossella; Cavarzere, Paolo; Guzzo, Alessandra; Antoniazzi, Franco:

    Hypocalcemia following Neridronate Administration in Pediatric Patients with Osteogenesis Imperfecta: A Prospective Observational Study

    • Case Report

  • 101
    Cagan Appak, Yeliz; Baran, Masallah; Ozturk Hismi, Burcu; Ozyilmaz, Berk; Vardi, Kader; Ozer Kaya, Ozge; Aksoy, Betul; Kasap Demir, Belde:

    Renal–Hepatic–Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype

  • 104
    Latchman, Kumarie; Nieto-Moreno, Margarita; Alberola, Roberto Lopez:

    Spastic Diplegia in a Haitian Girl with Angelman Syndrome

  • 109
    El-Bassyouni, Hala T.; Thomas, Manal M.; Tosson, Angie M.S.:

    Mutation in the SLC29A3 Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature

  • 114
    Akyol Onder, Esra Nagehan; Ozkol, Mine; Nese, Nalan; Taneli, Can; Cankorur, Osman Orkun; Ozunan, Ipek:

    Focal Xanthogranulomatous Pyelonephritis in Brachydactyly Mental Retardation Syndrome (2q37 Deletion Syndrome)

  • 117
    Selvam, Pavalan; Singh, Shekhar; Jain, Angita; Atwal, Herjot; Atwal, Paldeep S.:

    Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature

  • 121
    Avnon, Tomer; Svirsky, Ran; Orr-Urtreger, Avi; Sagie, Liora; Fattal-Valevski, Aviva; Fellig, Yakov; Ben-Shachar, Shay:

    Clinical Observation: Effect of a Second Transpositioned Variant in a Family with Autosomal Dominant Ryanodine Receptor-1–Related Disease

  • 125
    Gupta, Neerja; Langeh, Nitika; Sridharan, Aparajit; Kabra, Madhulika:

    Identification of a Novel 19-bp Deletion Mutation in LTBP4 Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C

  • 132
    Lelii, Mara; Baggi, Elena; Senatore, Laura; Bedeschi, Maria Francesca; Dilena, Robertino; Iascone, Maria; Gangi, Silvana; Marchisio, Paola; Patria, Maria Francesca:

    Familial Sleep Disorders in Unknown Genetic Syndrome

  • 137
    Speer, Rebecca R.; Ezeanya, Uzoamaka C.; Beaudoin, Sarah J.; Glass, Kristen M.; Oji-Mmuo, Christiana N.:

    Term Neonate Presenting with the Combined Occurrence of Mucolipidosis Type II and Leigh Syndrome

  • 142
    Garcha, Jaspreet; Jain, Angita; Atwal, Herjot; Sevlam, Pavalan; Atwal, Paldeep S.:

    Novel Pathogenic Variant in the Cys110 Residue: A Genotype–Phenotype Report of a Patient with Norrie Disease

    • Letter to the Editor

  • 145
    Bisht, Shilpa; Chawla, Bhavna; Dada, Rima:

    8-Hydroxy-2'-Deoxyguanosine in Sperm DNA and Increased Risk of Nonfamilial Sporadic Heritable Retinoblastoma in the Child