A specific mutation in TBL1XR1 causes Pierpont syndrome

BACKGROUND: The combination of developmental delay, facial characteristics, hearing loss and abnormal fat distribution in the distal limbs is known as Pierpont syndrome. The aim of the present study was to detect and study the cause of Pierpont syndrome. METHODS: We used whole-exome sequencing to an...

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Detalles Bibliográficos
Autores principales: Heinen, Charlotte A, Jongejan, Aldo, Watson, Peter J, Redeker, Bert, Boelen, Anita, Boudzovitch-Surovtseva, Olga, Forzano, Francesca, Hordijk, Roel, Kelley, Richard, Olney, Ann H, Pierpont, Mary Ella, Schaefer, G Bradley, Stewart, Fiona, van Trotsenburg, A S Paul, Fliers, Eric, Schwabe, John W R, Hennekam, Raoul C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2016
Materias:
Developmental Defects
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853543/
https://www.ncbi.nlm.nih.gov/pubmed/26769062
http://dx.doi.org/10.1136/jmedgenet-2015-103233

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