DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

eFirst

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: 27 March 2019

Original Article

Rudenskaya, Galina E.; Marakhonov, Andrey V.; Shchagina, Olga A.; Lozier, Ekaterina R.; Dadali, Elena L.; Akimova, Irina A.; Petrova, Nika V.; Konovalov, Fedor A.: Ataxia with Oculomotor Apraxia Type 4 with PNKP Common “Portuguese” and Novel Mutations in Two Belarusian Families
Supplementary Material

Original Article

Sen, Kuntal; Felice, Michael D.; Bannick, Allison; Colombo, Roberto; Conway, Robert L.: Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in Michigan

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: 30 January 2019

Original Article

Tripathi, Poonam; Agarwal, Sarita; Muthuswamy, Srinivasan: Prevalence and Genetic Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in Anemic Subjects from Uttar Pradesh, India

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

Publication Date: 02 January 2019

Original Article

González-del Angel, Ariadna; Fernández-Hernández, Liliana; Sánchez-Verdiguel, Iraís; González-Núñez, Aidy; Martínez-Cruz, Víctor; Sánchez, Carmen; Moreno-Rojas, Rosario; Alcántara-Ortigoza, Miguel Angel: Gene Variants in NKX2-1 Do Not Represent a Major Etiological Factor of Primary Congenital Hypothyroidism in Mexican Population

Publication Date: 18 December 2018

Case Report

Savasta, Salvatore; Bassanese, Francesco; Buschini, Chiara; Foiadelli, Thomas; Trabatti, Chiara; Efthymiou, Stephanie; Salpietro, Vincenzo; Houlden, Henry; Simoncelli, Annamaria; Marseglia, Gian Luigi: Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature

Publication Date: 18 November 2018

Case Report

Satapathy, Amit Kumar; Pandey, Swati; Chaudhary, Madhumita Roy; Bagga, Arvind; Kabra, Madhulika; Uwe, Kornak; Gupta, Neerja: Report of Another Mutation Proven Case of Carbonic Anhydrase II Deficiency

Case Report

Önder Yılmaz, Hale; Topak, Duran; Yılmaz, Orkun; Çakmaklı, Seda: A Turkish Female Twin Sister Patient with Fibular Aplasia, Congenital Tibia Pseudoarthrosis, Oligosyndactyly, and Negative WNT7A Gene Mutation

Publication Date: 02 November 2018

Case Report

Ardhanari, Mohanageetha; Barbouth, Deborah; Swaminathan, Sethuraman: Early-Onset Marfan Syndrome: A Case Series

Publication Date: 26 October 2018

Case Report

Gharesouran, Jalal; Esfahani, Behnaz Salek; Valilou, Saeed Farajzadeh; Moradi, Mohsen; Mousavi, Mir Hadi; Rezazadeh, Maryam: First Report of Congenital Short Bowel Syndrome in an Iranian Patient Caused by a Mutation in the CLMP Gene

Case Report

Radha Rama Devi, Akella; Kadali, Srilatha; Radhika, Ananthaneni; Singh, Vineeta; Kumar, M Aravind; Reddy, Gummadi Maheshwar; Naushad, Shaik Mohammad: Acute Gaucher Disease-Like Condition in an Indian Infant with a Novel Biallelic Mutation in the Prosaposin Gene

Publication Date: 13 October 2018

Case Report

Sen, Paushpala; Butler, Merlin G.: Classic Ehlers–Danlos Syndrome in a Son and Father with a Heart Transplant Performed in the Father

Publication Date: 21 September 2018

Case Report

Canter, Jennifer; Rao, Vinod B.; Palusci, Vincent J.; Kronn, David; Manaster, Michal; Altman, Robin: Interpreting Osteogenesis Imperfecta Variants of Uncertain Significance in the Context of Physical Abuse: A Case Series