DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

eFirst

Publication Date: 05 April 2018

Case Report

Shukla, Anju; Kaur, Parneet; Girisha, Katta M.: Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1
Supplementary Tables

Publication Date: 04 April 2018

Case Report

Kumar, Vivek; Roy, Shuvendu; Kumar, Gaurav: An Interesting and Unique Case of 8p23.3p23.1 Deletion and 8p23.1p11.1 Interstitial Duplication Syndrome

Publication Date: 09 March 2018

Case Report

Costain, Gregory; Inbar-Feigenberg, Michal; Saleh, Maha; Yaniv-Salem, Shimrit; Ryan, Greg; Morgen, Eric; Goh, Elaine S.; Nishimura, Gen; Chitayat, David: Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease)
Supplementary Figures

Publication Date: 07 March 2018

Case Report

Barış, Zeren; Özçay, Figen; Olcay, Lale; Ceylaner, Serdar; Sezer, Taner: A Case of Shwachman–Diamond Syndrome who Presented with Hypotonia

Case Report

Camacho, Jhon; Gutierrez, Luz Dary; Rubio, Cladelis; Suárez, Alfonso; Amaya, Angie: Multiple Hereditary Exostoses: Report of an EXT2 Gene Mutation in a Colombian Family

Publication Date: 16 February 2018

Original Article

Sangkhathat, Surasak; Laochareonsuk, Wison; Maneechay, Wanwisa; Kayasut, Kanita; Chiengkriwate, Piyawan: Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand

Publication Date: 28 January 2018

Review Article

Marik, Binata; Bagga, Arvind; Sinha, Aditi; Hari, Pankaj; Sharma, Arundhati: Genetics of Refractory Rickets: Identification of Novel PHEX Mutations in Indian Patients and a Literature Update

Publication Date: 16 January 2018

Case Report

Kırzıoglu, Zuhal; Oz, Esra: Oral-Facial-Digital Syndrome Type 1: Oral Findings in a 6-Year-Old Girl

Publication Date: 29 December 2017

Case Report

Bishop, Juliet Chhay; Britton, Jacquelyn Francis; Murphy, Anne M.; Sule, Sangeeta; Mitchell, Sally; Takemoto, Clifford; Collaco, Joseph M.; Karnsakul, Wikrom; Cuffari, Carmelo; Dietz, Edith; Bodurtha, Joann: Juvenile Idiopathic Arthritis Associated with Combined JP–HHT Syndrome: A Novel Phenotype Associated with a Novel Variant in SMAD4

Case Report

Shoukfeh, Omar; Richards, Alan B.; Prouty, Leonard A.; Hinrichsen, John; Spencer, William Rand; Langford, Marlyn P.: Case Report of Proliferative Peripheral Retinopathy in Two Familial Lissencephaly Infants with Miller–Dieker Syndrome

Publication Date: 21 December 2017

Original Article

Sawal, Humaira Aziz; Harripaul, Ricardo; Mikhailov, Anna; Vleuten, Kayla; Naeem, Farooq; Nasr, Tanveer; Hassan, Muhammad Jawad; Vincent, John B.; Ayub, Muhammad; Rafiq, Muhammad Arshad: Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene GPR56 in Pakistani Intellectual Disability Families
Supplementary Table

Publication Date: 18 December 2017

Case Report

Arican, Pinar; Cavusoglu, Dilek; Gencpinar, Pinar; Ozyilmaz, Berk; Ozdemir, Taha Resid; Dundar, Nihal Olgac: A De Novo Xp11.23 Duplication in a Girl with a Severe Phenotype: Expanding the Clinical Spectrum

Publication Date: 08 December 2017

Case Report

Mohammad, Ahmed N.; Atwal, Paldeep S.: A 2-Year-Old Child with Bilateral Ectopis Lentis and a Novel FBN1 Gene Variant Cys129Ser

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