Journal of Pediatric Genetics

Issue 02 · June 2019

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

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047
Tripathi, Poonam; Agarwal, Sarita; Muthuswamy, Srinivasan:
Prevalence and Genetic Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in Anemic Subjects from Uttar Pradesh, India

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054
Sen, Kuntal; Felice, Michael D.; Bannick, Allison; Colombo, Roberto; Conway, Robert L.:
Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in Michigan

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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

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Supplementary Material

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

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069
Sen, Paushpala; Butler, Merlin G.:
Classic Ehlers–Danlos Syndrome in a Son and Father with a Heart Transplant Performed in the Father

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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

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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

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086
Ardhanari, Mohanageetha; Barbouth, Deborah; Swaminathan, Sethuraman:
Early-Onset Marfan Syndrome: A Case Series

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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

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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

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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

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