An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations.
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| Title: | An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations. |
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| Authors: | 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. |
| Source: | NPJ genomic medicine [NPJ Genom Med] 2023 Mar 06; Vol. 8 (1), pp. 7. Date of Electronic Publication: 2023 Mar 06. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2056-7944 |
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| DOI: | 10.1038/s41525-023-00350-3 |
