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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Bibliografiske detaljer
Udgivet i:J Med Genet
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 2016
Fag:
Developmental Defects
Online adgang: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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