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
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