DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

eFirst

Publication Date: 12 June 2019

Case Report

Wallace, Alexandra; Caruso, Paul; Karaa, Amel: A Newborn with Severe Ventriculomegaly: Expanding the PPP2R1A Gene Mutation Phenotype

Publication Date: 11 June 2019

Case Report

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

Publication Date: 04 June 2019

Case Report

Bitsori, Maria; Vergadi, Eleni; Galanakis, Emmanouil: A Novel CLCN5 Splice Site Mutation in a Boy with Incomplete Phenotype of Dent Disease

Publication Date: 28 May 2019

Case Report

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

Original Article

del Pino, Mariana; Aza-Carmona, Miriam; Medino-Martín, David; Gomez, Abel; Heath, Karen E.; Fano, Virginia; Obregon, María Gabriela: SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New Mutation

Original Article

Kumru, Burcu; Oztürk Hismi, Burcu: Investigation of L-Carnitine Concentrations in Treated Patients with Maple Syrup Urine Disease

Publication Date: 20 April 2019

Case Report

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

Case Report

LaBrecque, Brett; Contreras, Marioxy; Giordano, Jessica; Parravicini, Elvira: Phenotypic Variation between Monochorionic Diamniotic Twins with Coffin–Siris Syndrome

Publication Date: 16 April 2019

Case Report

Mansour, Hicham; Sabbagh, Sandra; Bizzari, Sami; El-Hayek, Stephany; Chouery, Eliane; Gambarini, Alicia; Gencik, Martin; Mégarbané, André: The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency

Publication Date: 09 April 2019

Case Report

Yadav, Sakshi; Thakur, Seema; Kohlhase, Juergen; Bhari, Neetu; Kabra, Madhulika; Gupta, Neerja: Report of Two Novel Mutations in Indian Patients with Rothmund–Thomson Syndrome

Publication Date: 03 April 2019

Case Report

Kamranjam, Mana; Hosseini, Seyedeh Maryam; Alaei, Mohammadreza: A Novel Frameshift Mutation Associated with Hurler's Syndrome: A Case Report

Publication Date: 01 April 2019

Case Report

Gumus, Evren: A Novel Frameshift Homozygous Mutation in DHCR7 with a Known Missense Homozygous Mutation in the PROC in a 6-Year-Old Boy: A Child with Two Rare Genetic Diseases

Case Report

Mutlu-Albayrak, Hatice; Damar, Çağrı; Gürbüz, Gürkan: Esophageal Atresia and Thenar Hypoplasia Associated with Asymmetric Crying Face

Publication Date: 25 March 2019

Case Report

Jain, Angita; Atwal, Paldeep S.: Novel HIVEP2 Variant p.Q1248* is Associated with Developmental Delay: A Case Report

Publication Date: 12 March 2019

Case Report

Gupta, Neerja; Correa, Alec Reginald Errol; Jana, Manisha; Kabra, Madhulika: Report of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type

Publication Date: 13 February 2019

Case Report

Vásquez Sotomayor, Flor; Abarca-Barriga, Hugo Hernán: Homozygous Deletion of the CFTR Gene Caused by Interstitial Maternal Isodisomy in a Peruvian Child with Cystic Fibrosis
Supplementary Material

Publication Date: 14 January 2019

Case Report

Chatmethakul, Trassanee; Phaltas, Rozaleen; Minzes, Gwen; Martinez, Jose; Bhat, Ramachandra: A Rare Co-occurrence of Intestinal Malrotation and Hirschsprung's Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including the EDNRB Gene