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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Med Genet
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Publishing Group 2016
Pynciau:
Developmental Defects
Mynediad Ar-lein: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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