An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations.

Autor: Flanagan FO; Division of Pulmonary Medicine, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA., Holtz AM; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA., Vargas SO; Department of Pathology, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA., Genetti CA; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, USA., Schmitz-Abe K; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, USA.; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA., Casey A; Division of Pulmonary Medicine, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA., Kennedy JC; Division of Pulmonary Medicine, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA., Raby BA; Division of Pulmonary Medicine, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA., Mullen MP; Department of Cardiology, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA. mary.mullen@cardio.chboston.org., Fishman MP; Division of Pulmonary Medicine, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA., Agrawal PB; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA. pxa502@miami.edu.; Department of Pathology, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA. pxa502@miami.edu.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, USA. pxa502@miami.edu.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine, Miami, FL, USA. pxa502@miami.edu.

Publikováno v: NPJ genomic medicine [NPJ Genom Med] 2023 Mar 06; Vol. 8 (1), pp. 7. Date of Electronic Publication: 2023 Mar 06.