A novel frameshift mutation in Allan-Herndon-Dudley syndrome-Reference-Cited by-同舟云学术

A novel frameshift mutation in Allan-Herndon-Dudley syndrome

Published:2022-04-07 Issue:4 Volume:136 Page:1181-1187
ISSN:0937-9827
Container-title:International Journal of Legal Medicine
language:en
Short-container-title:Int J Legal Med

Author:

Liu Zihao,Zhao Shuquan,Chen Jianyi,Ma Longda,Shi Qing,Zhou Yiwu^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Pathology and Forensic Medicine

Link

https://link.springer.com/content/pdf/10.1007/s00414-022-02823-z.pdf

Reference24 articles.

1. Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S (2004) A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet 74:168–175. https://doi.org/10.1086/380999

2. Allan W, Herndon CN, Dudley FC (1944) Some examples of the inheritance of mental deficiency: apparently sex-linked idiocy and microcephaly. Am J Ment Defic 48:325–334

3. Schwartz CE, May MM, Carpenter NJ et al (2005) Allan–Herndon–Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum Genet 77:41–53. https://doi.org/10.1086/431313

4. Schwartz CE, Stevenson RE (2007) The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome. Best Pract Res Clin Endocrinol Metab 21(2):307–321. https://doi.org/10.1016/j.beem.2007.03.009

5. Friesema EC, Grueters A, Biebermann H, Krude H, von Moers A, Reeser M, Barrett TG, Mancilla EE, Svensson J, Kester MH, Kuiper GG, Balkassmi S, Uitterlinden AG, Koehrle J, Rodien P, Halestrap AP, Visser TJ (2004) Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet 364(9443):1435–7. https://doi.org/10.1016/S0140-6736(04)17226-7

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