DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Current 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
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

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
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