Journal of Pediatric Genetics

Issue 02 · June 2018

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

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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

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Supplementary Material

Supplementary Table (PDF)
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

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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

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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

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083
Mohammad, Ahmed N.; Atwal, Paldeep S.:
A 2-Year-Old Child with Bilateral Ectopis Lentis and a Novel FBN1 Gene Variant Cys129Ser

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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

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092
Kırzıoglu, Zuhal; Oz, Esra:
Oral-Facial-Digital Syndrome Type 1: Oral Findings in a 6-Year-Old Girl

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