(Q45345166)

13 December 2017

title

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. (English)

1 reference

13 December 2017

main subject

thanatophoric dysplasia

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8

Rimoin DL

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13 December 2017

6

Lachman RS

1 reference

13 December 2017

Tavormina PL

1

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13 December 2017

Shiang R

2

1 reference

13 December 2017

Thompson LM

3

1 reference

13 December 2017

Zhu YZ

4

1 reference

13 December 2017

Wilkin DJ

5

1 reference

13 December 2017

Wilcox WR

7

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13 December 2017

Cohn DH

9

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13 December 2017

Wasmuth JJ

10

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13 December 2017

publication date

1 March 1995

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13 December 2017

language of work or name

0 references

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13 December 2017

volume

9

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13 December 2017

issue

3

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13 December 2017

page(s)

321-328

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

13 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-321

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-321

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-321

Diverse forms of a receptor for acidic and basic fibroblast growth factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-321

Prenatal diagnosis of the skeletal dysplasias

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-321

21 January 2018

Thanatophoric dwarfism.

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-321

7 January 2021

An infant with thanatophoric dwarfism surviving 169 days

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-321

7 January 2021

Growth and development in thanatophoric dysplasia

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-321

7 January 2021

Thanatophoric dysplasia and cloverleaf skull

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-321

7 January 2021

Signal transduction by receptors with tyrosine kinase activity

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-321

7 January 2021

Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-321

7 January 2021

A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4.

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-321

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-321

7 January 2021

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-321

7 January 2021

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-321

7 January 2021

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-321

7 January 2021

Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: Prenatal diagnosis, clinical and pathological findings

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-321

7 January 2021

Discordance for the Kleeblattschädel anomaly in monozygotic twins with thanatophoric dysplasia

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-321

7 January 2021

Cerebral abnormalities in thanatophoric dysplasia

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-321

7 January 2021

Quantitation of craniofacial anomalies in utero: fetal alcohol and Crouzon syndromes and thanatophoric dysplasia

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-321

7 January 2021

Sonographic diagnosis of cloverleaf skull and thanatophoric dysplasia in the second trimester

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-321

7 January 2021

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-321

7 January 2021

Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-321

7 January 2021

Identifiers

DOI

10.1038/NG0395-321

1 reference

Dimensions Publication ID

13 December 2017

1009570605

0 references

1 reference