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 (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

    • 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