A case of thanatophoric dysplasia type I with an R248C mutation in the gene

A case of thanatophoric dysplasia type I with an R248C mutation in the gene

Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malfo...

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Bibliographic Details
Main Authors: Eun Jung Noe, Han Wook Yoo, Kwang Nam Kim, So Yeon Lee
Format: Article
Language:English
Published: Korean Pediatric Society 2010-12-01
Series:Korean Journal of Pediatrics
Subjects:
Thanatophoric dysplasia
Fbroblast growth factor receptor 3 () gene
Online Access:http://kjp.or.kr/upload/pdf/kjped-53-1022.pdf
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spelling doaj-0c27ab765c724f77899fdd41019bf4e42020-11-25T00:26:36ZengKorean Pediatric SocietyKorean Journal of Pediatrics1738-10612092-72582010-12-0153121022102510.3345/kjp.2010.53.12.10222010531209A case of thanatophoric dysplasia type I with an R248C mutation in the geneEun Jung Noe0Han Wook Yoo1Kwang Nam Kim2So Yeon Lee3Department of Pediatrics, College of Medicine, Hallym University, Seoul, Korea.Department of Pediatrics, Medical Genetics Clinic & Laboratory, Asan Medical Center, Seoul, Korea.Department of Pediatrics, College of Medicine, Hallym University, Seoul, Korea.Department of Pediatrics, College of Medicine, Hallym University, Seoul, Korea.Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malformations result from the mutation in fibroblast growth factor receptor 3 (FGFR-3) gene which is located on the short arm of chromosome 4. A definite diagnosis should be established by molecular genetic analysis to find out the abnormal mutations in the FGFR3 gene. We confirmed by detection of a R248C mutation in the FGFR3 gene in DNA analysis.http://kjp.or.kr/upload/pdf/kjped-53-1022.pdfThanatophoric dysplasiaFbroblast growth factor receptor 3 () gene
collection DOAJ
language English
format Article
sources DOAJ
author Eun Jung Noe
Han Wook Yoo
Kwang Nam Kim
So Yeon Lee
spellingShingle Eun Jung Noe
Han Wook Yoo
Kwang Nam Kim
So Yeon Lee
A case of thanatophoric dysplasia type I with an R248C mutation in the gene
Korean Journal of Pediatrics
Thanatophoric dysplasia
Fbroblast growth factor receptor 3 () gene
author_facet Eun Jung Noe
Han Wook Yoo
Kwang Nam Kim
So Yeon Lee
author_sort Eun Jung Noe
title A case of thanatophoric dysplasia type I with an R248C mutation in the gene
title_short A case of thanatophoric dysplasia type I with an R248C mutation in the gene
title_full A case of thanatophoric dysplasia type I with an R248C mutation in the gene
title_fullStr A case of thanatophoric dysplasia type I with an R248C mutation in the gene
title_full_unstemmed A case of thanatophoric dysplasia type I with an R248C mutation in the gene
title_sort case of thanatophoric dysplasia type i with an r248c mutation in the gene
publisher Korean Pediatric Society
series Korean Journal of Pediatrics
issn 1738-1061
2092-7258
publishDate 2010-12-01
description Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malformations result from the mutation in fibroblast growth factor receptor 3 (FGFR-3) gene which is located on the short arm of chromosome 4. A definite diagnosis should be established by molecular genetic analysis to find out the abnormal mutations in the FGFR3 gene. We confirmed by detection of a R248C mutation in the FGFR3 gene in DNA analysis.
topic Thanatophoric dysplasia
Fbroblast growth factor receptor 3 () gene
url http://kjp.or.kr/upload/pdf/kjped-53-1022.pdf
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AT hanwookyoo acaseofthanatophoricdysplasiatypeiwithanr248cmutationinthegene
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