(Q33678201)

English

Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene

scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

1 reference

based on heuristic

inferred from title

sensorineural hearing loss

1 reference

based on heuristic

inferred from title

author name string

Ionasescu VV

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Searby C

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Greenberg SA

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

0 references

publication date

1 December 1996

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

33

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

12

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

1048-1049

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050822

21 June 2018

The status of HMSN type III.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050822

21 June 2018

De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050822

21 June 2018

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

https://pubmed.ncbi.nlm.nih.gov/9004143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9004143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.33.12.1048

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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