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

BACKGROUND: 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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Cytogenet
Prif Awduron: Li, Qi, Zhang, Zhen, Yan, Yuchun, Xiao, Ping, Gao, Zhijie, Cheng, Wei, Su, Lin, Yu, Kaihui, Xie, Hua, Chen, Xiaoli, Jiang, Qian, Li, Long
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2015
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4678473/
https://ncbi.nlm.nih.gov/pubmed/26673557
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0201-0
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