Persisting embryonal infundibular recess in a case of TITF-1 gene mutation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cardiology and Cardiovascular Medicine,Neurology (clinical),Radiology, Nuclear Medicine and imaging
Link
https://link.springer.com/content/pdf/10.1007/s00234-022-02905-0.pdf
Reference11 articles.
1. Veneziano L, Parkinson MH, Mantuano E, Frontali M, Bhatia KP, Giunti P (2014) A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature. Cerebellum 13(5):588–595. https://doi.org/10.1007/s12311-014-0570-7
2. Krude H, Schütz B, Biebermann H, von Moers A, Schnabel D, Neitzel H et al (2002) Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. Journal Clin Invest 109(4):475–480. https://doi.org/10.1172/JCI14341
3. Accornero S, Danesino C, Bastianello S, D’Errico I, Guala A, Chiovato L (2010) Duplication of the pituitary stalk in a patient with a heterozygous deletion of chromosome 14 harboring the thyroid transcription factor-1 gene. J Clin Endocrinol Metab 95(8):3595–3596. https://doi.org/10.1210/jc.2010-0621
4. Salvatore E, Di Maio L, Filla A, Ferrara AM, Rinaldi C, Saccà F et al (2010) Benign hereditary chorea: clinical and neuroimaging features in an Italian family. Mov Disord 25(10):1491–1496. https://doi.org/10.1002/mds.23065
5. Balicza P, Grosz Z, Molnár V, Illés A, Csabán D, Gézsi A et al (2018) NKX2-1 new mutation associated with myoclonus, dystonia, and pituitary involvement. Front Genet 9:335. https://doi.org/10.3389/fgene.2018.00335
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