(Q33681649)

28 July 2017

title

Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM) (English)

1 reference

28 July 2017

1

1 reference

28 July 2017

R Perveen

2

1 reference

28 July 2017

E Hatchwell

series ordinal

3

1 reference

28 July 2017

A Reck

series ordinal

4

1 reference

28 July 2017

J Clayton-Smith

series ordinal

5

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 December 1998

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

35

1 reference

28 July 2017

issue

12

1 reference

28 July 2017

page(s)

985-988

1 reference

Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051508

A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051508

Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051508

Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051508

Neural misdirection in congenital ocular fibrosis syndrome: implications and pathogenesis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051508

Generalized fibrosis of the extraocular muscles

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051508

Dominantly inherited ptosis, strabismus and ectopic pupils

21 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9863593

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Congenital fibrosis of the extraocular muscles; a report of six cases

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9863593

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.35.12.985

1 reference

28 July 2017

1 reference

28 July 2017

1 reference