Clinically Mild, Atypical, and Aged Craniofacial Syndrome is Diagnosed as Crouzon Syndrome by Identification of a Point Mutation in the Fibroblast Growth Factor Receptor 2 Gene (FGFR2)-Reference-Cited by-同舟云学术

Clinically Mild, Atypical, and Aged Craniofacial Syndrome is Diagnosed as Crouzon Syndrome by Identification of a Point Mutation in the Fibroblast Growth Factor Receptor 2 Gene (FGFR2)

Published:2004 Issue:5 Volume:43 Page:432-435
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

MAEDA Toyoki¹,HATAKENAKA Masamitsu²,MUTA Hiromi¹,NAKAYAMA Masaharu¹,NAKAZAKI Yukoh¹,HIROYAMA Takashi¹,SUZUKI Tomokazu¹,TANI Kenzaburo¹

Affiliation:

1. Division of Molecular and Clinical Genetics, the Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University

2. Department of Radiology, Medical Institute of Bioregulation, Kyushu University

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

http://www.jstage.jst.go.jp/article/internalmedicine/43/5/43_5_432/_pdf

Reference11 articles.

1. Craniofacial syndromes: no such thing as a single gene disease

2. The Cervical Spine in Crouzon Syndrome

3. Intracranial volume change in craniosynostosis

4. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

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