Journal of Pediatric Genetics (ISSN: 2146-4596) now in

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Official Journal of the World Society of Child Science, Turkiye


Volume 7, Number 1, Year 2018

Reviewers' List
Contributing Reviewers in 2017

Review Article
John D. Gettelfinger and John P. Dahl:
Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma

Original Articles
Arya Shambhavi, Smrithi Salian, Hitesh Shah, Mohandas Nair, Krishma Sharan, Dong-Kyu Jin, Sung Yoon Cho, Mary Mathew, Anju Shukla and Katta M. Girisha:
Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor

Matthias Kettwig, Andreas Ohlenbusch, Klaus Jung, Robert Steinfeld and Jutta Gärtner:
Cathepsin D Polymorphism C224T in Childhood-Onset Neurodegenerative Disorders: No Impact for Childhood Dementia

Mable Misha Singh, Ravindra Kumar, Satyendra Tewari and Sarita Agarwal:
No Association of Genetic Markers with Carotid Intimal Medial Thickness in β-Thalassemia Major Patients

Casse Reports
Jess F. Peterson, Donald G. Basel, David P. Bick, Brett Chirempes and Rachel B. Lorier, Nykula Zemlicka, John W. Grignon, LuAnn Weik and Ulrike Kappes:
A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the XIST Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33)

Andrea Domenico Praticò, Raffaele Falsaperla, Renata Rizzo, Martino Ruggieri, Alberto Verrotti and Piero Pavone
A New Patient with Potocki–Lupski Syndrome: A Literature Review

Jess F. Peterson, Gabrielle C. Geddes, Donald G. Basel, Dana Schippman, John W. Grignon, Peter vanTuinen and Ulrike P. Kappes:
Inheritance of a Balanced t(12;20)(q24.33;p12.2) and Unbalanced der(13)t(7;13)(p21.3;q33.2) from a Maternally Derived Double Balanced Translocation Carrier

Paulo Victor Sgobbi de Souza, Thiago Bortholin, Stênio Burlin, Fernando George Monteiro Naylor, Wladimir Bocca Vieira de Rezende Pinto and Acary Souza Bulle Oliveira:
NFU1-Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy

Letter to the Editor
Wolfgang Briegel:
Disability-Related Problems of Children and Adolescents with Moebius Sequence and their Mothers' Coping

Beuy Joob and Viroj Wiwanitkit:
Sensorineural Hearing Loss and Congenital Cytomegalovirus Infection

Paolo Fontana:
Reply to the Letter: “Sensorineural Hearing Loss and Congenital Cytomegalovirus Infection”