DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

eFirst

Publication Date: 04 December 2019

Erratum

Eid, Maha M.; Eid, Ola M.; Abdel-Hadi, Sawsan; Hassib, Nehal; Madian, Abdelrahman; Afifi, Hanan H.; Abdel-Salam, Ghada M.H.: Erratum: Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients

Publication Date: 21 November 2019

Clinical Report

Eid, Maha M.; Eid, Ola M.; Abdel-Hadi, Sawsan; Hassib, Nehal; Median, Abdelrahman; Afifi, Hanan H.; Abdel-Salam, Ghada M.H.: Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients

Publication Date: 18 November 2019

Case Report

Jia, Yue; Yue, Changjun; Bradford, Kathryn; Qing, Xin; Panosyan, Eduard H.; Gotesman, Moran: Novel ELANE Gene Mutation in a Newborn with Severe Congenital Neutropenia: Case Report and Literature Review

Publication Date: 15 November 2019

Case Report

Alfurayh, Nuha; Alsaif, Fahad; Alballa, Nouf; Zeitouni, Leena; Ramzan, Khushnooda; Imtiaz, Faiqa; Alakeel, Abdullah: LEOPARD Syndrome with PTPN11 Gene Mutation in Three Family Members Presenting with Different Phenotypes

Publication Date: 11 November 2019

Case Report

Sharma, Sonia: Failure to Thrive, Jaundice, and Polyuria in Early Infancy: Common Presentation with an Uncommon Lethal Etiology

Publication Date: 07 November 2019

Original Article

Barbian, Cláudia Daniela; Reuter, Cézane Priscila; Renner, Jane Dagmar Pollo; da Silva, Priscila Tatiana; Klinger, Elisa Inês; Hobkirk, James Philip; de Moura Valim, Andréia Rosane; Burgos, Miria Suzana: Anthropometric and Metabolic Responses in FTO rs9939609 Gene Polymorphism after a Multidisciplinary Lifestyle Intervention in Overweight and Obese Adolescents

Publication Date: 06 November 2019

Case Report

Güzel Erdal, Gülbahar; Balkan, Mahmut: Turner Syndrome with Isochromosome Xq

Publication Date: 04 November 2019

Case Report

Abo El Fotoh, Wafaa Moustafa M.; Al-fiky, Amira Fathy: A Compound Heterozygous Mutation in the Ciliary Gene TTC21B Causes Nephronophthisis Type 12

Case Report

Bossi, Grazia; Errichiello, Edoardo; Zuffardi, Orsetta; Marone, Piero; Monzillo, Vincenzina; Barbarini, Daniela; Vergori, Antonio; Bassi, Lorenzo Andrea; Rispoli, Gaetana Anna; De Amici, Mara; Zecca, Marco: Disseminated Mycobacterium Avium Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of IFNGR1 for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant

Publication Date: 30 October 2019

Case Report

Anant, Monika; Raj, Nutan; Yadav, Neelu; Prasad, Arun; Kumar, Subhash; Saxena, Ajit K.: Two Distinctively Rare Syndromes in a Case of Primary Amenorrhea: 18p Deletion and Mayer–Rokitansky–Kuster–Hauser Syndromes

Publication Date: 24 October 2019

Case Report

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

Publication Date: 23 October 2019

Review Article

Cárdenas-Nieto, Diana; Forero-Castro, Maribel; Esteban-Pérez, Clara; Martínez-Lozano, Julio; Briceño-Balcázar, Ignacio: The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review
Supplementary Material

Publication Date: 22 October 2019

Case Report

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

Publication Date: 21 October 2019

Case Report

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

Case Report

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

Case Report

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

Publication Date: 16 October 2019

Case Report

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

Letter to the Editor

Sriwijitalai, Won; Wiwanitkit, Viroj: Polymorphism in MTHFR SNPs (677 and 1298) in Paternal Sperm DNA and Risk of Retinoblastoma in their Children

Original Article

Ozyilmaz, Berk; Kirbiyik, Ozgur; Ozdemir, Taha R.; Kaya, Ozge Ozer; Kutbay, Yasar B.; Erdogan, Kadri M.; Guvenc, Merve Saka; Koc, Altug: The Efficiency of SNP-Based Microarrays in the Detection of Copy-Neutral Events at 15q11.2 and 11p15.5 Loci

Publication Date: 30 September 2019

Case Report

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

Publication Date: 23 September 2019

Case Report

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)

Case Report

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

Publication Date: 16 September 2019

Case Report

Leone, Paola E.; Pérez-Villa, Andy; Yumiceba, Verónica; Hernández, María Ángeles; García-Cárdenas, Jennyfer M.; Armendáriz-Castillo, Isaac; Guerrero, Santiago; Guevara-Ramírez, Patricia; López-Cortés, Andrés; Zambrano, Ana Karina; García, Juan Luis; Hernández, Jesús María; Paz-y-Miño, César: De Novo Duplication of Chromosome 9p in a Female Infant: Phenotype and Genotype Correlation
Supplementary Material

Publication Date: 12 September 2019

Case Report

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

Publication Date: 03 September 2019

Case Report

da Costa Almeida, Carla Bastos; Welter, Amanda Thum; Abech, Gabriel Dotta; Brandão, Gabriela Rangel; Flores, José Antônio Monteiro; Schüle, Birgitt; Francke, Uta; Fiegenbaum, Marilu; Zen, Paulo Ricardo Gazzola; Rosa, Rafael Fabiano Machado: Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant

Case Report

Herrero-García, Ana; Marín-Reina, Purificación; Cabezuelo-Huerta, Gloria; Ferrer-Lorente, M. Belén; Rosello, Mónica; Orellana, Carmen; Martínez, Francisco; Pérez-Aytés, Antonio: Mixed Phenotype of Langer–Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion

Publication Date: 02 September 2019

Case Report

Masip, Etna; Donat, Ester; Polo, Begoña; Oltra, Silvestre; Ortega, Pedro; Ribes-Koninckx, Carmen: Recurrent Metabolic Alkalosis in a Cystic Fibrosis Patient: Coexistence with Congenital Chloride Diarrhea

Case Report

Ramos Mejía, Rosario; Aza-Carmona, Miriam; del Pino, Mariana; Heath, Karen E.; Fano, Virginia; Obregon, Maria Gabriela: Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation

Publication Date: 28 August 2019

Case Report

Arslan, Ahmet Burak; Zamani, Ayşe Gül; Pekcan, Sevgi; Yıldırım, Mahmut Selman: A Novel Pathogenic Variant of the CFTR Gene in a Patient with Cystic Fibrosis Phenotype—c.4096A > T

Publication Date: 26 August 2019

Case Report

Jain, Angita; Selvam, Pavalan; Atwal, Herjot; Atwal, Paldeep S.: A Report of a Novel Pathogenic Variant in a Family with Buschke–Ollendorf Syndrome

Publication Date: 19 August 2019

Case Report

Pournami, Femitha; Upadhyay, Swati; Nandakumar, Anand; Prabhakar, Jyothi; Jain, Naveen: Familial Hemophagocytic Lymphohistiocytosis: A Rare Mutation of STXBP2 in Exon 19

Publication Date: 12 August 2019

Case Report

Atli, Emine Ikbal; Gurkan, Hakan; Atli, Engin; Vatansever, Ulfet; Acunas, Betul; Mail, Cisem: De Novo Subtelomeric 6p25.3 Deletion with Duplication of 6q23.3-q27: Genotype–Phenotype Correlation

Case Report

Taslicay, Ceylan Altintas; Dervisoglu, Elmire; Ciftci, Ercument; Corapcioglu, Funda; Anik, Yonca: PHACE Syndrome: A Rare Case