First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center-Reference-Cited by-同舟云学术

First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center

Published:2021-07-23 Issue:4 Volume:22 Page:343-346
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Quesada-Espinosa Juan F.^ORCID,Garzón-Lorenzo Lucía,Lezana-Rosales José M.,Gómez-Rodríguez María J.,Sánchez-Calvin María T.,Palma-Milla Carmen,Gómez-Manjón Irene,Hidalgo-Mayoral Irene,Pérez de la Fuente Rubén,Arteche-López Ana,Álvarez-Mora María I.,Camacho-Salas Ana,Cruz-Rojo Jaime,Lázaro-Rodríguez Irene,Morales-Conejo Montserrat,Nuñez-Enamorado Noemí,Bustamante-Aragones Ana,Simón de las Heras Rogelio,Gomez-Cano María A.,Ramos-Gómez Patricia,Sierra-Tomillo Ollalla,Juárez-Rufián Alexandra,Gallego-Merlo Jesús,Rausell-Sánchez Laura,Moreno-García Marta,Sánchez del Pozo Jaime

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s10048-021-00660-7.pdf

Reference24 articles.

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2. Arjona FJ, de Vrieze E, Visser TJ et al (2011) Identification and functional characterization of zebrafish solute carrier Slc16a2 (Mct8) as a thyroid hormone membrane transporter. Endocrinology 152(12):5065–5073

3. 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

4. Krude H, Biebermann H, Schuelke M et al (2020) Allan-Herndon-Dudley-syndrome: considerations about the brain phenotype with implications for treatment strategies. Exp Clin Endocrinol Diabetes 128(6–07):414–422

5. Gika AD, Siddiqui A, Hulse AJ et al (2010) White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene. Dev Med Child Neurol 52(5):475–482

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1. Unmet patient needs in monocarboxylate transporter 8 (MCT8) deficiency: a review;Frontiers in Pediatrics;2024-07-22

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