DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

eFirst

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

Publication Date: 15 September 2018

Case Report

Gogou, Maria; Damianidou, Labrini; Papageorgiou, Theodotis; Tragiannidis, Athanasios; Haidopoulou, Katerina; Giannopoulos, Andreas; Hatzipantelis, Emmanuel: Description of an ELANE Mutation in a Girl with Severe Congenital Neutropenia: A Paradigm of Targeted Genetic Screening Based on Clinical Findings

Publication Date: 31 August 2018

Case Report

Lazzara, Alexandra; Daymont, Carrie; Ladda, Roger; Lull, Jordan; Ficicioglu, Can; Cohen, Jennifer L.; Aprile, Justen: Failure to Thrive: An Expanded Differential Diagnosis

Publication Date: 25 August 2018

Case Report

Liaugaudiene, Olga; Stoniene, Dalia; Kucinskiene, Ruta; Buffat, Christophe; Asmoniene, Virginija: Case Report on a Rare Disease in Lithuania: Congenital Chloride Diarrhea

Publication Date: 22 August 2018

Case Report

Kendir, Ozlem Tolu; Yilmaz, Hayri Levent; Bozdogan, Sevcan; Bisgin, Atıl; Celik, Tugçe; Surmelioglu, Ozgur; Doran, Figen: A Two-Month-Old Child with Vascular Ectasia: A Case Report Diagnosed by Molecular Karyotyping

Publication Date: 30 June 2018

Case Report

Durrani, Sana; Chen, Bee Chin; Yakob, Yusnita; Hian, Lua Seok; Afroze, Bushra: Mitochondrial Neurogastrointestinal Encephalomyopathy Disease in Three Siblings from Pakistan with a Novel Mutation

Publication Date: 10 May 2017

Erratum

Gaboon, Nagwa E. A.; Bakur, Khadijah H.; Edrees, Alaa Y.; Al-Aama, Jumana Y.: Erratum: Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia