DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 02 · Volume 07 · June 2018 DOI: 10.1055/s-008-39819

Review Article

047
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

Original Article

060
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
067
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

Case Report

074
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
078
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
083
Mohammad, Ahmed N.; Atwal, Paldeep S.: A 2-Year-Old Child with Bilateral Ectopis Lentis and a Novel FBN1 Gene Variant Cys129Ser
086
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
092
Kırzıoglu, Zuhal; Oz, Esra: Oral-Facial-Digital Syndrome Type 1: Oral Findings in a 6-Year-Old Girl