(Q42573166)

2 November 2017

0 references

A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene (English)

1 reference

2 November 2017

thanatophoric dysplasia

1 reference

Eun Jung Noe

1

1 reference

2 November 2017

Han Wook Yoo

series ordinal

2

1 reference

2 November 2017

Kwang Nam Kim

series ordinal

3

1 reference

2 November 2017

So Yeon Lee

series ordinal

4

1 reference

2 November 2017

language of work or name

1 reference

31 December 2010

1 reference

Korean journal of pediatrics

2 November 2017

1 reference

2 November 2017

53

1 reference

2 November 2017

12

1 reference

2 November 2017

1022-1025

1 reference

Creative Commons Attribution-NonCommercial 3.0 Unported

2 November 2017

start time

1 January 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Long-term survival in typical thanatophoric dysplasia type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021729

The birth prevalence rates for the skeletal dysplasias

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021729

The importance of early prenatal diagnosis of thanatophoric dysplasia with respect to obstetric management

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021729

Thanatophoric dysplasia and cloverleaf skull

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021729

Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021729

Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021729

Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia

16 August 2018

1 reference

12 December 2020

Thanatophoric dysplasia

1 reference

12 December 2020

Prenatal diagnosis and molecular analysis of type 1 thanatophoric dysplasia

1 reference

12 December 2020

[Thanatophoric dwarfism]

1 reference

12 December 2020

Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia

1 reference

12 December 2020

10.3345/KJP.2010.53.12.1022

Identifiers

DOI

1 reference

2 November 2017

1 reference

2 November 2017

PubMed publication ID

21253318

1 reference