(Q35214089)

7 August 2017

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title

Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type (English)

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7 August 2017

Luitgard Graul-Neumann

1

object named as

Luitgard Neumann

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7 August 2017

Jürgen Kunze

2

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7 August 2017

Markus Uhl

3

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7 August 2017

Brigitte Stöver

4

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7 August 2017

Bernhard Zabel

5

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7 August 2017

Jürgen Spranger

6

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7 August 2017

5 September 2003

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7 August 2017

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7 August 2017

33

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7 August 2017

11

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7 August 2017

786-790

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https://scigraph.springernature.com/pub.10.1007/s00247-003-1055-x

7 August 2017

0 references

cites work

Clinical spectrum of fibroblast growth factor receptor mutations

1 reference

12 December 2020

Variability of platyspondylic lethal chondrodysplasia: another case report

1 reference

12 December 2020

Lethal, neonatal, short-limbed platyspondylic dwarfism. A further variant?

1 reference

12 December 2020

Further heterogeneity within lethal neonatal short-limbed dwarfism: The platyspondylic types

1 reference

12 December 2020

Survival and dominant transmission of "lethal" platyspondylic dwarfism of the "West coast" types

1 reference

12 December 2020

Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations

1 reference

12 December 2020

Torrance type of lethal neonatal short-limbed platyspondylic dwarfism

1 reference

12 December 2020

Human fibroblast growth factor receptor 3 gene (FGFR3): genomic sequence and primer set information for gene analysis

1 reference

12 December 2020

Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3.

1 reference

12 December 2020

10.1007/S00247-003-1055-X

Identifiers

DOI

1 reference

7 August 2017

1 reference