DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 02 · Volume 08 · June 2019 DOI: 10.1055/s-009-42999

Original Article

  • 041
    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

  • 047
    Tripathi, Poonam; Agarwal, Sarita; Muthuswamy, Srinivasan:

    Prevalence and Genetic Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in Anemic Subjects from Uttar Pradesh, India

  • 054
    Sen, Kuntal; Felice, Michael D.; Bannick, Allison; Colombo, Roberto; Conway, Robert L.:

    Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in Michigan

  • 058
    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 (PDF)

    • Case Report

  • 063
    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

  • 069
    Sen, Paushpala; Butler, Merlin G.:

    Classic Ehlers–Danlos Syndrome in a Son and Father with a Heart Transplant Performed in the Father

  • 073
    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

  • 081
    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

  • 086
    Ardhanari, Mohanageetha; Barbouth, Deborah; Swaminathan, Sethuraman:

    Early-Onset Marfan Syndrome: A Case Series

  • 091
    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

  • 095
    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

  • 100
    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