Journal of Pediatric Genetics

Ibarra-Ramírez, Marisol; Campos-Acevedo, Luis Daniel; Martínez de Villarreal, Laura E.: Chromosomal Abnormalities of Interest in Turner Syndrome: An Update

Pendleton, Katherine E.; Hernandez-Garcia, Andres; Lyu, Jennifer M.; Campbell, Ian M.; Shaw, Chad A.; Vogt, Julie; High, Frances A.; Donahoe, Patricia K.; Chung, Wendy K.; Scott, Daryl A.: FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia

Alwan, Sura; Chambers, Christina D.: Identifying Human Teratogens: An Update

Correa, Hernán: Li–Fraumeni Syndrome

Lubinsky, Mark: Genesis of a Fact: Tay-Sachs Disease as a “Simple Recessive”

Gettelfinger, John D.; Dahl, John P.: Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics

Alwan, Nisreen A.; Hamamy, Hanan: Maternal Iron Status in Pregnancy and Long-Term Health Outcomes in the Offspring

Kannan, Balachander; Navamani, Hepzibah Kirubamani; Jayaseelan, Vijayashree Priyadharsini; Arumugam, Paramasivam: A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype–Phenotype Analysis

Öztürk, Özden; Bagis, Haydar; Bolu, Semih: Osteogenesis Imperfecta and Split Foot Malformation due to 7q21.2q21.3 Deletion Including COL1A2, DLX5/6 Genes: Review of the Literature

Sait, Haseena; Srivastava, Somya; Kumar, Somesh; Varughese, Bijo; Pandey, Manmohan; Venkatramaiah, Manjunath; Chaudhary, Parul; Moirangthem, Amita; Mandal, Kausik; Kapoor, Seema: Inborn Errors of Ketogenesis: Novel Variants, Clinical Presentation, and Follow-Up in a Series of Four Patients