(Q33668571)

28 July 2017

title

Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures (English)

1 reference

28 July 2017

0 references

multiple abnormalities

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241531

29 March 2024

1 reference

https://api.crossref.org/works/10.1136/JMG.18.2.129

29 March 2024

author name string

R. M. Winter

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241531

29 March 2024

D. Donnai

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241531

29 March 2024

M. D. Crawfurd

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241531

29 March 2024

language of work or name

English

0 references

publication date

1 April 1981

1 reference

full work available at URL

28 July 2017

https://jmg.bmj.com/content/18/2/129.full.pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241531

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/7241531/?tool=EBI

29 March 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241531

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/7241531/pdf/?tool=EBI

29 March 2024

file format

Portable Document Format

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241531

http://jmg.bmjjournals.com/cgi/content/abstract/18/2/129

29 March 2024

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241531

https://europepmc.org/articles/PMC1048685

29 March 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7241531

https://europepmc.org/articles/PMC1048685?pdf=render

29 March 2024

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%3A7241531

https://syndication.highwire.org/content/doi/10.1136/jmg.18.2.129

29 March 2024

1 reference

https://api.crossref.org/works/10.1136/JMG.18.2.129

Journal of Medical Genetics

29 March 2024

published in

1 reference

28 July 2017

volume

18

1 reference

28 July 2017

issue

2

1 reference

28 July 2017

page(s)

129-133

1 reference

Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: A new syndrome

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=1048685

A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048685

A further example of a lethal autosomal recessive condition in sibs

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048685

The cerebro-oculo-facio-skeletal syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048685

Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048685

Fatal syndrome of multiple malformations in 3 siblings

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048685

A syndrome of microcephaly and cataracts in four siblings. A new genetic syndrome?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048685

Further evidence for the autosomal-recessive inheritance of the COFS syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048685

21 June 2018

COFS syndrome revisited

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048685

Necropsy of original case of Lowry's syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048685

Renal Anomalies and Oligohydramnios in the Cerebro-oculofacio-skeletal Syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048685

Brief clinical observations: the Neu-Laxova syndrome--a distinct entity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048685

The cerebro-oculo-facio-skeletal syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048685

21 June 2018

Identifiers

0 references

1 reference

28 July 2017

1 reference