Journal of Pediatric Genetics

Issue 02 · June 2020

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Issue
Review Article
077
Kostara, Maria; Chondrou, Vasiliki; Sgourou, Argyro; Douros, Konstantinos; Tsabouri, Sophia: HLA Polymorphisms and Food Allergy Predisposition

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Original Article
087
Singh, Ankur; Prasad, Rajniti; Mishra, Om Prakash: Spectrum of Lysosomal Storage Disorders at Tertiary Centre: Retrospective Case-Record Analysis

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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

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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

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104
Latchman, Kumarie; Nieto-Moreno, Margarita; Alberola, Roberto Lopez: Spastic Diplegia in a Haitian Girl with Angelman Syndrome

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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

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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)

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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

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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

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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

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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

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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

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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

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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

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