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...

詳細記述

保存先:
書誌詳細
出版年:J Med Genet
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Publishing Group 2016
主題:
Developmental Defects
オンライン･アクセス: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
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!

類似資料