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2. A further case of brain-lung-thyroid syndrome with deletion proximal to NKX2-1. Kharbanda M; Hermanns P; Jones J; Pohlenz J; Horrocks I; Donaldson M Eur J Med Genet; 2017 May; 60(5):257-260. PubMed ID: 28286255 [TBL] [Abstract][Full Text] [Related]
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5. A novel 14q13.1-21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency. Hu X; Liu J; Guo R; Guo J; Zhao Z; Li W; Xu B; Hao C Mol Cytogenet; 2019; 12():51. PubMed ID: 31890031 [TBL] [Abstract][Full Text] [Related]
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7. Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus. Santen GW; Sun Y; Gijsbers AC; Carré A; Holvoet M; Haeringen Av; Lesnik Oberstein SA; Tomoda A; Mabe H; Polak M; Devriendt K; Ruivenkamp CA; Bijlsma EK J Med Genet; 2012 Jun; 49(6):366-72. PubMed ID: 22636604 [TBL] [Abstract][Full Text] [Related]
9. NK2 homeobox gene cluster: Functions and roles in human diseases. Mio C; Baldan F; Damante G Genes Dis; 2023 Sep; 10(5):2038-2048. PubMed ID: 37492711 [TBL] [Abstract][Full Text] [Related]
10. Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP? Invernizzi F; Zorzi G; Legati A; Coppola G; D'Adamo P; Nardocci N; Garavaglia B; Ghezzi D Eur J Med Genet; 2018 Oct; 61(10):581-584. PubMed ID: 29621620 [TBL] [Abstract][Full Text] [Related]
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12. Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders. Palumbo O; Accadia M; Palumbo P; Leone MP; Scorrano A; Palladino T; Stallone R; Bonaglia MC; Carella M Eur J Med Genet; 2018 May; 61(5):248-252. PubMed ID: 29274487 [TBL] [Abstract][Full Text] [Related]
13. A Video Report of Brain-Lung-Thyroid Syndrome in a Japanese Female With a Novel Frameshift Mutation of the Tozawa T; Yokochi K; Kono S; Konishi T; Yamamoto T; Nishimura A; Chiyonobu T; Morimoto M; Hosoi H Child Neurol Open; 2016; 3():2329048X16665012. PubMed ID: 28503612 [TBL] [Abstract][Full Text] [Related]
14. Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea. Liao J; Coffman KA; Locker J; Padiath QS; Nmezi B; Filipink RA; Hu J; Sathanoori M; Madan-Khetarpal S; McGuire M; Schreiber A; Moran R; Friedman N; Hoffner L; Rajkovic A; Yatsenko SA; Surti U Mol Genet Genomic Med; 2021 Apr; 9(4):e1647. PubMed ID: 33666368 [TBL] [Abstract][Full Text] [Related]
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16. Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: Literature review and description of an additional patient. Shimojima K; Okamoto N; Yamamoto T Congenit Anom (Kyoto); 2017 Jul; 57(4):109-113. PubMed ID: 27957763 [TBL] [Abstract][Full Text] [Related]
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