DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 03 · Volume 08 · September 2019 DOI: 10.1055/s-009-43865

Review Article

  • 109
    Nielsen, Cory; Ratiu, Ileana; Esfandiarei, Mitra; Chen, Angela; Selamet Tierney, Elif Seda:

    A Review of Psychosocial Factors of Marfan Syndrome: Adolescents, Adults, Families, and Providers

    • Original Article

  • 123
    del Pino, Mariana; Aza-Carmona, Miriam; Medino-Martín, David; Gomez, Abel; Heath, Karen E.; Fano, Virginia; Obregon, María Gabriela:

    SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New Mutation

  • 133
    Kumru, Burcu; Oztürk Hismi, Burcu:

    Investigation of L-Carnitine Concentrations in Treated Patients with Maple Syrup Urine Disease

  • 137
    Taleb, Hasan; Afshar, Ahmadreza; Abdi rad, Isa; Tabrizi, Ali; Ghazani, Reza Babaei; Bateni, Amin:

    A High Prevalence Rate of Tibia Hemimelia in a Subregion of West Azarbaijan, Iran

    • Case Report

  • 142
    Chatmethakul, Trassanee; Phaltas, Rozaleen; Minzes, Gwen; Martinez, Jose; Bhat, Ramachandra:

    A Rare Co-occurrence of Intestinal Malrotation and Hirschsprung's Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including the EDNRB Gene

  • 147
    Vásquez Sotomayor, Flor; Abarca-Barriga, Hugo Hernán:

    Homozygous Deletion of the CFTR Gene Caused by Interstitial Maternal Isodisomy in a Peruvian Child with Cystic Fibrosis

    Supplementary Material (XLS)
  • 153
    Gupta, Neerja; Correa, Alec Reginald Errol; Jana, Manisha; Kabra, Madhulika:

    Report of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type

  • 157
    Jain, Angita; Atwal, Paldeep S.:

    Novel HIVEP2 Variant p.Q1248* is Associated with Developmental Delay: A Case Report

  • 160
    Mutlu-Albayrak, Hatice; Damar, Çağrı; Gürbüz, Gürkan:

    Esophageal Atresia and Thenar Hypoplasia Associated with Asymmetric Crying Face

  • 163
    Yadav, Sakshi; Thakur, Seema; Kohlhase, Juergen; Bhari, Neetu; Kabra, Madhulika; Gupta, Neerja:

    Report of Two Novel Mutations in Indian Patients with Rothmund–Thomson Syndrome

  • 168
    Gumus, Evren:

    A Novel Frameshift Homozygous Mutation in DHCR7 with a Known Missense Homozygous Mutation in the PROC in a 6-Year-Old Boy: A Child with Two Rare Genetic Diseases

  • 172
    Mansour, Hicham; Sabbagh, Sandra; Bizzari, Sami; El-Hayek, Stephany; Chouery, Eliane; Gambarini, Alicia; Gencik, Martin; Mégarbané, André:

    The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency