(Q56232771)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9071492%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Neuropathological findings in the cerebro-oculo-facio-skeletal (Pena-Shokeir II) syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9071492%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

author name string

T Sakai

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9071492%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

F Kikuchi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9071492%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

S Takashima

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9071492%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

H Matsuda

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9071492%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

N Watanabe

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9071492%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

publication date

1 January 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9071492%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

published in

Brain and Development

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9071492%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

volume

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9071492%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9071492%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

page(s)

58-62

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9071492%20AND%20SRC:MED&resulttype=core&format=json

A variant of the cerebro-oculo-facio-skeletal syndrome with congenital ectropion and a case of lamellar ichthyosis in the same family.

1 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900057-5

7 January 2021

The Neu-COFS (cerebro-oculo-facio-skeletal) syndrome: report of a case

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900057-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900057-5

7 January 2021

The cerebro-oculo-facio-skeletal syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900057-5

7 January 2021

The cerebro-oculo-facio-skeletal syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900057-5

7 January 2021

The cerebro-oculo-facio-skeletal syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900057-5

7 January 2021

Cerebro-oculo-facio-skeletal syndrome: further delineation

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900057-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900057-5

7 January 2021

The surviving monozygotic twin

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900057-5

7 January 2021

Chondro-osseous changes in Cerebro-Oculo-Facial-Skeletal (COFS) syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900057-5

7 January 2021

Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900057-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900057-5

7 January 2021

Classification of corneal endothelial disorders based on neural crest origin

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2896%2900057-5

7 January 2021

10.1016/S0387-7604(96)00057-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9071492%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference