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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Bibliografische gegevens
Gepubliceerd in:J Med Genet
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BMJ Publishing Group 2016
Onderwerpen:
Developmental Defects
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4853543/
https://ncbi.nlm.nih.gov/pubmed/26769062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103233
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