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...

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Detalles Bibliográficos
Autores principales: Li, Qi, Zhang, Zhen, Yan, Yuchun, Xiao, Ping, Gao, Zhijie, Cheng, Wei, Su, Lin, Yu, Kaihui, Xie, Hua, Chen, Xiaoli, Jiang, Qian, Li, Long
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678473/
https://www.ncbi.nlm.nih.gov/pubmed/26673557
http://dx.doi.org/10.1186/s13039-015-0201-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678473/
https://www.ncbi.nlm.nih.gov/pubmed/26673557
http://dx.doi.org/10.1186/s13039-015-0201-0

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