(Q24514981)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8474111%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

title

Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8474111%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

main subject

Young-Simpson syndrome

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8474111%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

author name string

K M Barlow

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8474111%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

A M Burt

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8474111%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

D G Barr

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8474111%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

language of work or name

English

0 references

publication date

1 March 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8474111%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

13 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8474111%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

volume

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8474111%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8474111%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

page(s)

255-256

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8474111%20AND%20SRC:MED&resulttype=core&format=json

Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation

13 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016313

Unknown syndrome: abnormal facies, hypothyroidism, and severe retardation: a second patient.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016313

Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016313

Unknown syndrome in sibs: microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016313

30 May 2018

Identifiers

DOI

10.1136/JMG.30.3.255

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8474111%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8474111%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

PubMed publication ID

8474111

1 reference