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

Research output: Contribution to journalArticleOtherpeer-review

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

Cite this

Li, Qi ; Zhang, Zhen ; Yan, Yuchun ; Xiao, Ping ; Gao, Zhijie ; Cheng, Wei ; Su, Lin ; Yu, Kaihui ; Xie, Hua ; Chen, Xiaoli ; Jiang, Qian ; Li, Long. / Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion. In: Molecular Cytogenetics. 2015 ; Vol. 8, No. 1.
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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.",
author = "Qi Li and Zhen Zhang and Yuchun Yan and Ping Xiao and Zhijie Gao and Wei Cheng and Lin Su and Kaihui Yu and Hua Xie and Xiaoli Chen and Qian Jiang and Long Li",
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Li, Q, Zhang, Z, Yan, Y, Xiao, P, Gao, Z, Cheng, W, Su, L, Yu, K, Xie, H, Chen, X, Jiang, Q & Li, L 2015, 'Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion' Molecular Cytogenetics, vol. 8, no. 1, 95. https://doi.org/10.1186/s13039-015-0201-0

Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion. / Li, Qi; Zhang, Zhen; Yan, Yuchun; Xiao, Ping; Gao, Zhijie; Cheng, Wei; Su, Lin; Yu, Kaihui; Xie, Hua; Chen, Xiaoli; Jiang, Qian; Li, Long.

In: Molecular Cytogenetics, Vol. 8, No. 1, 95, 12.2015.

Research output: Contribution to journalArticleOtherpeer-review

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T1 - Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion

AU - Li, Qi

AU - Zhang, Zhen

AU - Yan, Yuchun

AU - Xiao, Ping

AU - Gao, Zhijie

AU - Cheng, Wei

AU - Su, Lin

AU - Yu, Kaihui

AU - Xie, Hua

AU - Chen, Xiaoli

AU - Jiang, Qian

AU - Li, Long

PY - 2015/12

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N2 - 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.

AB - 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.

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DO - 10.1186/s13039-015-0201-0

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VL - 8

JO - Molecular Cytogenetics

JF - Molecular Cytogenetics

SN - 1755-8166

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