Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Editorial
. 2022 Dec 15;206(12):1448-1449.
doi: 10.1164/rccm.202208-1461ED.

Understanding Genotype-Phenotype Correlations in Patients with TBX4 Mutations: New Views Inside and Outside the Box

Affiliations
Editorial

Understanding Genotype-Phenotype Correlations in Patients with TBX4 Mutations: New Views Inside and Outside the Box

Mary P Mullen. Am J Respir Crit Care Med. .
No abstract available

PubMed Disclaimer

Comment on

  • First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
    Prapa M, Lago-Docampo M, Swietlik EM, Montani D, Eyries M, Humbert M, Welch CL, Chung WK, Berger RMF, Bogaard HJ, Danhaive O, Escribano-Subías P, Gall H, Girerd B, Hernandez-Gonzalez I, Holden S, Hunt D, Jansen SMA, Kerstjens-Frederikse W, Kiely DG, Lapunzina P, McDermott J, Moledina S, Pepke-Zaba J, Polwarth GJ, Schotte G, Tenorio-Castaño J, Thompson AAR, Wharton J, Wort SJ, Megy K, Mapeta R, Treacy CM, Martin JM, Li W, Swift AJ, Upton PD, Morrell NW, Gräf S, Valverde D; NIHR BioResource for Translational Research–Rare Diseases; National Cohort Study of Idiopathic and Heritable PAH; PAH Biobank Enrolling Centers’ Investigators. Prapa M, et al. Am J Respir Crit Care Med. 2022 Dec 15;206(12):1522-1533. doi: 10.1164/rccm.202203-0485OC. Am J Respir Crit Care Med. 2022. PMID: 35852389 Free PMC article.

References

    1. Southgate L, Machado RD, Gräf S, Morrell NW. Molecular genetic framework underlying pulmonary arterial hypertension. Nat Rev Cardiol . 2020;17:85–95. - PubMed
    1. Aldred MA, Morrell NW, Guignabert C. New mutations and pathogenesis of pulmonary hypertension: progress and puzzles in disease pathogenesis. Circ Res . 2022;130:1365–1381. - PMC - PubMed
    1. Zhu N, Gonzaga-Jauregui C, Welch CL, Ma L, Qi H, King AK, et al. Exome sequencing in children with pulmonary arterial hypertension demonstrates differences compared with adults. Circ Genom Precis Med . 2018;11:e001887. - PMC - PubMed
    1. Nimmakayalu M, Major H, Sheffield V, Solomon DH, Smith RJ, Patil SR, et al. Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension. Am J Med Genet A . 2011;155A:418–423. - PubMed
    1. Kerstjens-Frederikse WS, Bongers EM, Roofthooft MT, Leter EM, Douwes JM, Van Dijk A, et al. TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. J Med Genet . 2013;50:500–506. - PMC - PubMed