A Novel FOXE1 Mutation (R73S) in Bamforth–Lazarus Syndrome Causing Increased Thyroidal Gene Expression

Background: Homozygous loss-of-function mutations in the FOXE1 gene have been reported in several patients with partial or complete Bamforth–Lazarus syndrome: congenital hypothyroidism (CH) with thyroid dysgenesis (usually athyreosis), cleft palate, spiky hair, with or without choanal atresia, and b...

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Detalhes bibliográficos
Principais autores: Carré, Aurore, Hamza, Rasha T., Kariyawasam, Dulanjalee, Guillot, Loïc, Teissier, Raphaël, Tron, Elodie, Castanet, Mireille, Dupuy, Corinne, El Kholy, Mohamed, Polak, Michel
Formato: Artigo
Idioma:Inglês
Publicado em: Mary Ann Liebert, Inc. 2014
Assuntos:
Original StudiesThyroid Dysfunction: Hypothyroidism, Thyrotoxicosis, and Thyroid Function Tests
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3993030/
https://ncbi.nlm.nih.gov/pubmed/24219130
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/thy.2013.0417
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