(Q56353298)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14564217

22 March 2024

4

Agnès Bloch-Zupan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14564217

22 March 2024

author name string

Gail Norbury

3

0 references

Rachel L. Jones

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14564217

22 March 2024

Robin M. Winter

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14564217

full work available at URL

22 March 2024

language of work or name

English

0 references

publication date

October 2003

0 references

http://journals.lww.com/00019605-200310000-00012

1 reference

https://api.crossref.org/works/10.1097/00019605-200310000-00012

Pitfalls of genetic counselling in Pfeiffer's syndrome

22 March 2024

published in

Clinical Dysmorphology

0 references

volume

12

0 references

issue

4

0 references

page(s)

269-74

0 references

cites work

2

1 reference

https://api.crossref.org/works/10.1097/00019605-200310000-00012

Pleiotropic features of syndromic craniosynostoses correlate with differential expression of fibroblast growth factor receptors 1 and 2 during human craniofacial development

22 March 2024

3

1 reference

https://api.crossref.org/works/10.1097/00019605-200310000-00012

Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates

22 March 2024

6

1 reference

https://api.crossref.org/works/10.1097/00019605-200310000-00012

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

22 March 2024

7

1 reference

https://api.crossref.org/works/10.1097/00019605-200310000-00012

Dominant erbliche Akrocephalosyndaktylie

22 March 2024

9

1 reference

https://api.crossref.org/works/10.1097/00019605-200310000-00012

Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.

22 March 2024

10

1 reference

https://api.crossref.org/works/10.1097/00019605-200310000-00012

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

22 March 2024

11

1 reference

https://api.crossref.org/works/10.1097/00019605-200310000-00012

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome

22 March 2024

12

1 reference

https://api.crossref.org/works/10.1097/00019605-200310000-00012

22 March 2024

Identifiers

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14564217

22 March 2024