A patient with congenital hypothyroidism due to a <i>PAX8</i> frameshift variant accompanying a urogenital malformation-Reference-Cited by-同舟云学术

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A patient with congenital hypothyroidism due to a <i>PAX8</i> frameshift variant accompanying a urogenital malformation

Published:2022 Issue:4 Volume:31 Page:250-255
ISSN:0918-5739
Container-title:Clinical Pediatric Endocrinology
language:en
Short-container-title:Clin Pediatr Endocrinol

Author:

Tanase-Nakao Kanako¹,Muroya Koji²,Adachi Masanori²,Abe Kiyomi³,Hasegawa Tomonobu³,Narumi Satoshi¹

Affiliation:

1. Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan

2. Department of Endocrinology and Metabolism, Kanagawa Children’s Medical Center, Yokohama, Japan

3. Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan

Publisher

Japanese Society for Pediatric Endocrinology

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.jstage.jst.go.jp/article/cpe/31/4/31_2022-0030/_pdf

Reference40 articles.

1. 1. Ford, G, LaFranchi, SH. Screening for congenital hypothyroidism: a worldwide view of strategies. Best Pract Res Clin Endocrinol Metab 2014;28: 175–87.

2. 2. van Trotsenburg, P, Stoupa, A, Léger, J, Rohrer, T, Peters, C, Fugazzola, L, et al. Congenital hypothyroidism: A 2020-2021 consensus guidelines update-an ENDO-European reference network initiative endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology. Thyroid 2021;31: 387–419.

3. 3. Di Palma, T, Nitsch, R, Mascia, A, Nitsch, L, Di Lauro, R, Zannini, M. The paired domain-containing factor Pax8 and the homeodomain-containing factor TTF-1 directly interact and synergistically activate transcription. J Biol Chem 2003;278: 3395–402.

4. 4. Lanzerath, K, Bettendorf, M, Haag, C, Kneppo, C, Schulze, E, Grulich-Henn, J. Screening for Pax8 mutations in patients with congenital hypothyroidism in South-West Germany. Horm Res 2006;66: 96–100.

5. 5. Narumi, S, Muroya, K, Asakura, Y, Adachi, M, Hasegawa, T. Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients. J Clin Endocrinol Metab 2010;95: 1981–5.

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