(Q54709256)

English

Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption.

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

3 June 2018

http://europepmc.org/abstract/MED/20034068

Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption. (English)

1 reference

Europe PubMed Central

PubMed publication ID

3 June 2018

http://europepmc.org/abstract/MED/20034068

restrictive dermopathy

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Chumei Li

1

1 reference

Europe PubMed Central

PubMed publication ID

3 June 2018

http://europepmc.org/abstract/MED/20034068

language of work or name

0 references

publication date

1 January 2010

1 reference

Europe PubMed Central

PubMed publication ID

3 June 2018

http://europepmc.org/abstract/MED/20034068

American Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

3 June 2018

http://europepmc.org/abstract/MED/20034068

152A

1 reference

Europe PubMed Central

PubMed publication ID

3 June 2018

http://europepmc.org/abstract/MED/20034068

1

1 reference

Europe PubMed Central

PubMed publication ID

3 June 2018

http://europepmc.org/abstract/MED/20034068

262-263

1 reference

Europe PubMed Central

PubMed publication ID

3 June 2018

http://europepmc.org/abstract/MED/20034068

Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: a fatal syndrome in Hutterite and Mennonite kindreds.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33163

21 January 2018

Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33163

21 January 2018

Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33163

21 January 2018

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33163

21 January 2018

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33163

21 January 2018

Unique disease heritage of the Dutch-German Mennonite population.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33163

21 January 2018

Identifiers

10.1002/AJMG.A.33163

1 reference

Europe PubMed Central

PubMed publication ID

3 June 2018

http://europepmc.org/abstract/MED/20034068

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 June 2018

http://europepmc.org/abstract/MED/20034068

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