Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion

Qi Li, Zhen Zhang, Yuchun Yan, Ping Xiao, Zhijie Gao, Wei Cheng, Lin Su, Kaihui Yu, Hua Xie, Xiaoli Chen, Qian Jiang, Long Li

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4 Citations (Scopus)

Abstract

Trichorhinophalangeal syndrome type II (TRPS II, OMIM 150230) is a rare autosomal dominant genetic disorder characterized by craniofacial and skeletal abnormalities. Loss of functional copies of the TRPS1 gene at 8q23.3 and the EXT1 gene at 8q24.11 are considered to be responsible for the syndrome.
Original languageEnglish
Article number95
Number of pages6
JournalMolecular Cytogenetics
Volume8
Issue number1
DOIs
Publication statusPublished - Dec 2015

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