(Q41644601)

6 October 2017

Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1453438

spondyloepiphyseal dysplasia congenita

28 September 2022

main subject

0 references

1 reference

I. D. Young

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1453438

28 September 2022

N. R. Ruggins

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1453438

28 September 2022

J. M. Somers

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1453438

28 September 2022

J. M. Zuccollo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1453438

28 September 2022

N. Rutter

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1453438

28 September 2022

language of work or name

English

0 references

publication date

1 November 1992

1 reference

PMC publication ID

1016183

full work available at URL

6 October 2017

https://europepmc.org/articles/PMC1016183

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1453438

https://europepmc.org/articles/PMC1016183?pdf=render

28 September 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1453438

Journal of Medical Genetics

28 September 2022

published in

1 reference

6 October 2017

29

1 reference

6 October 2017

11

1 reference

6 October 2017

831-833

1 reference

Observations suggesting allelism of the achondroplasia and hypochondroplasia genes.

6 October 2017

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016183

Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia

6 June 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016183

Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias.

6 June 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016183

A new estimate of the achondroplasia mutation rate

6 June 2018

1 reference

12 December 2020

Growth characteristics and response to growth hormone therapy in patients with hypochondroplasia: genetic linkage of the insulin-like growth factor I gene at chromosome 12q23 to the disease in a subgroup of these patients

1 reference

12 December 2020

Achondroplasia is not caused by mutation in the gene for type II collagen

1 reference

12 December 2020

Two clinical variants of spondylo-epiphysial dysplasia congenita

1 reference

12 December 2020

Achondroplasia-hypochondroplasia complex

1 reference

12 December 2020

Dominance and homozygosity in man

1 reference

12 December 2020

Homozygous achondroplasia with survival beyond infancy

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.29.11.831

1 reference

6 October 2017

1 reference

PMC publication ID

1016183

6 October 2017

1 reference

PMC publication ID

1016183