Journal of Pediatric Genetics

Upadia, Jariya; Gomes, Alicia; Weiser, Peter; Descartes, Maria: A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome

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

Gunes, Sevinc Odabasi; Calisici, Erhan; Arslan, Mutluay; Akin, Onur; Karagol, Belma Saygili: Transient Neonatal Diabetes Mellitus and Seizure with an Unknown Etiology

Jerkovich, Adria M.; Butler, Merlin G.: Further phenotypic expansion of 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome

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

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

Correa, Hernán: Li–Fraumeni Syndrome

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

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