International research symposium on Goltz syndrome

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• 作者：Timothy J. Fete and Mary Fete
• 刊名：American Journal of Medical Genetics Part C: Seminars in Medical Genetics
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：172
• 期：1
• 页码：3-6
• 全文大小：63K
• ISSN：1552-4876

文摘

The International Research Symposium on Goltz Syndrome was held at Texas Children's Hospital on July 22 and 23, 2013. This unique research, educational, and family-oriented symposium was sponsored by the National Foundation for Ectodermal Dysplasias, Baylor College of Medicine and Texas Children's Hospital. Goltz syndrome, or Focal Dermal Hypoplasia (FDH), is a highly variable X-linked dominant disorder with abnormalities in tissues derived from the ectoderm and mesoderm. Classic clinical features include patchy hypoplastic skin, split hand/foot deformities, and ocular manifestations. FDH is caused by PORCN gene mutations. PORCN is involved in the secretion and signaling of Wnt proteins, which play a role in embryonic tissue development. The purpose of the International Research Symposium on Goltz Syndrome was to review the progress that has been made in recent years in research related to this rare disorder and to explore potential future research directions and treatments. This issue of American Journal of Medical Genetics contains the research findings from the evaluations from multiple subspecialties. There is a recommendation for a new diagnostic guideline to aid clinicians in identifying individuals with Focal Dermal Hypoplasia. A tissue repository has been instituted at Texas Children's Hospital, to aid future researchers in this area.