DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 04 · Volume 08 · December 2019 DOI: 10.1055/s-009-44792

Original Article

  • 179
    El-Bassyouni, Hala T.; Hassan, Nagwa; Mahfouz, Inas; Abd-Elnaby, Azza E.; Mostafa, Mostafa I.; Tosson, Angie M.S.:

    Early Detection and Management of Prader-Willi Syndrome in Egyptian Patients

  • 187
    Chukua, Kanokporn; Netsawang, Chayanont; Padungthai, Kittipoom; Khetkham, Thanitchet; Chokevittaya, Piyaporn; Poonjearansilp, Onapinya; Prachuktum, Sariya; Kositamongkol, Sudatip; Techasatit, Wiliporn; Silapamongkolkul, Phakatip; Satayasai, Wallee; Pusongchai, Tasama; Surapolchai, Pacharapan; Rojnueangnit, Kitiwan:

    Two Novel GATA1 Mutations in Transient Abnormal Myelopoiesis of Thai Neonates with Down Syndrome

    Supplementary Material (PDF)
  • 193
    Tyagi, Anudishi; Pramanik, Raja; Bakhshi, Radhika; Vishnubhatla, Sreenivas; Bakhshi, Sameer:

    Genetic Landscape of Mitochondrial Regulatory Region in Pediatric Acute Myeloid Leukemia: Changes from Diagnosis to Relapse

  • 198
    Alegra, Taciane; Sperb-Ludwig, Fernanda; Guarany, Nicole Ruas; Ribeiro, Erlane M.; Lourenço, Charles M.; Kim, Chong Ae; Valadares, Eugênia R.; Galera, Marcial Francis; Acosta, Angelina X.; Horovitz, Dafne Dain Gandelman; Schwartz, Ida Vanessa Doederlein:

    Clinical Characterization of Mucolipidoses II and III: A Multicenter Study

    • Case Report

  • 205
    Pavone, Piero; Marino, Simona Domenica; Corsello, Giovanni; Ruggieri, Martino; Chiodo, Danilo Castellano; Marino, Silvia; Falsaperla, Raffaele:

    Cerebral White Matter Lesions and Dysmorphisms: Signs Suggestive of 6p25 Deletion Syndrome—Literature Review

  • 212
    Kamranjam, Mana; Hosseini, Seyedeh Maryam; Alaei, Mohammadreza:

    A Novel Frameshift Mutation Associated with Hurler's Syndrome: A Case Report

  • 218
    LaBrecque, Brett; Contreras, Marioxy; Giordano, Jessica; Parravicini, Elvira:

    Phenotypic Variation between Monochorionic Diamniotic Twins with Coffin–Siris Syndrome

  • 222
    Johannsen, Jessika; Bierhals, Tatjana; Deindl, Philipp; Hecher, Laura; Hermann, Katharina; Hempel, Maja; Kloth, Katja; Denecke, Jonas:

    Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant

  • 226
    Urzua, Abraham; Burattini, Sofia; Pinochet, Constanza; Benavides, Felipe; Repetto, Gabriela M.:

    Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith–Wiedemann Syndrome

  • 231
    Vázquez-Justes, Daniel; Carreño-Gago, Lidia; García-Arumi, Elena; Traveset, Alicia; Montoya, Julio; Ruiz-Pesini, Eduardo; López, Ricard; Brieva, Luis:

    Mitochondrial m.13513G>A Point Mutation in ND5 in a 16-Year-Old Man with Leber Hereditary Optic Neuropathy Detected by Next-Generation Sequencing

  • 235
    Bitsori, Maria; Vergadi, Eleni; Galanakis, Emmanouil:

    A Novel CLCN5 Splice Site Mutation in a Boy with Incomplete Phenotype of Dent Disease

  • 240
    Wallace, Alexandra; Caruso, Paul; Karaa, Amel:

    A Newborn with Severe Ventriculomegaly: Expanding the PPP2R1A Gene Mutation Phenotype

  • 244
    Thomas, Elizabeth; Lewis, Andrea M.; Yang, Yaping; Chanprasert, Sirisak; Potocki, Lorraine; Scott, Daryl A.:

    Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability

  • 252
    Nair, Pratibha; El-Bazzal, Lara; Mansour, Hicham; Sabbagh, Sandra; Al-Ali, Mahmoud Taleb; Gambarini, Alicia; Delague, Valerie; El-Hayek, Stephany; Mégarbané, André:

    Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review