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5. Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity. Karolak JA; Szafranski P; Kilner D; Patel C; Scurry B; Kinning E; Chandler K; Jhangiani SN; Coban Akdemir ZH; Lupski JR; Popek E; Stankiewicz P Clin Genet; 2019 Oct; 96(4):366-370. PubMed ID: 31309540 [TBL] [Abstract][Full Text] [Related]
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7. Mutations in the human TBX4 gene cause small patella syndrome. Bongers EM; Duijf PH; van Beersum SE; Schoots J; Van Kampen A; Burckhardt A; Hamel BC; Losan F; Hoefsloot LH; Yntema HG; Knoers NV; van Bokhoven H Am J Hum Genet; 2004 Jun; 74(6):1239-48. PubMed ID: 15106123 [TBL] [Abstract][Full Text] [Related]
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9. TBX4 syndrome: a systemic disease highlighted by pulmonary arterial hypertension in its most severe form. Austin ED; Elliott CG Eur Respir J; 2020 May; 55(5):. PubMed ID: 32409426 [No Abstract] [Full Text] [Related]
10. Genetic analyses in a cohort of children with pulmonary hypertension. Levy M; Eyries M; Szezepanski I; Ladouceur M; Nadaud S; Bonnet D; Soubrier F Eur Respir J; 2016 Oct; 48(4):1118-1126. PubMed ID: 27587546 [TBL] [Abstract][Full Text] [Related]
11. Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant. Yıldız Bölükbaşı E; Karolak JA; Szafranski P; Gambin T; Murik O; Zeevi DA; Altarescu G; Stankiewicz P Am J Med Genet A; 2022 May; 188(5):1420-1425. PubMed ID: 35075769 [TBL] [Abstract][Full Text] [Related]
12. Expression of T-box transcription factors 2, 4 and 5 is decreased in the branching airway mesenchyme of nitrofen-induced hypoplastic lungs. Takahashi T; Friedmacher F; Zimmer J; Puri P Pediatr Surg Int; 2017 Feb; 33(2):139-143. PubMed ID: 27833996 [TBL] [Abstract][Full Text] [Related]
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14. Virtual cloning and physical mapping of a human T-box gene, TBX4. Yi CH; Russ A; Brook JD Genomics; 2000 Jul; 67(1):92-5. PubMed ID: 10945475 [TBL] [Abstract][Full Text] [Related]
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18. Causes of clinical diversity in human TBX5 mutations. Huang T; Lock JE; Marshall AC; Basson C; Seidman JG; Seidman CE Cold Spring Harb Symp Quant Biol; 2002; 67():115-20. PubMed ID: 12858531 [No Abstract] [Full Text] [Related]
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20. Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis. Takeda K; Kou I; Kawakami N; Iida A; Nakajima M; Ogura Y; Imagawa E; Miyake N; Matsumoto N; Yasuhiko Y; Sudo H; Kotani T; ; Nakamura M; Matsumoto M; Watanabe K; Ikegawa S Hum Mutat; 2017 Mar; 38(3):317-323. PubMed ID: 28054739 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]