A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature (Q21146703)

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10 June 2020

3

Louise Simard

Louise

Simard

1 reference

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10 June 2020

4

Wael El-Matary

Wael

El-Matary

1 reference

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10 June 2020

Jeremy Schwartzentruber

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6

object named as

Jeremy Schwartzentruber

author given names

Jeremy

author last names

Schwartzentruber

1 reference

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10 June 2020

7

Jacek Majewski

Jacek

Majewski

1 reference

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8

FORGE Canada Consortium

1 reference

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10 June 2020

Bernard Chodirker

2

Bernard

Chodirker

1 reference

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10 June 2020

Ana Hanlon-Dearman

series ordinal

5

author given names

Ana

author last names

Hanlon-Dearman

1 reference

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10 June 2020

Cheryl Rockman-Greenberg

series ordinal

9

author given names

Cheryl

author last names

Rockman-Greenberg

1 reference

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language of work or name

English

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publication date

30 April 2015

7 references

13 March 2019

22 April 2019

18 October 2019

28 November 2019

18 December 2019

13 September 2020

3 November 2020

2015

0 references

8 references

13 March 2019

22 April 2019

18 October 2019

28 November 2019

18 December 2019

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10 June 2020

13 September 2020

3 November 2020

16

1 reference

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page(s)

28

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Creative Commons Attribution

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issue

1

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copyright license

7 references

13 March 2019

22 April 2019

18 October 2019

28 November 2019

18 December 2019

13 September 2020

3 November 2020

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on focus list of Wikimedia project

ScienceSource

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exact match

https://scigraph.springernature.com/pub.10.1186/s12881-015-0175-0

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cites work

CCBE1 is essential for mammalian lymphatic vascular development and enhances the lymphangiogenic effect of vascular endothelial growth factor-C in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630843

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630843

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630843

Clinical disorders of primary malfunctioning of the lymphatic system

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630843

CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630843

Mutations in PIK3R1 cause SHORT syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630843

Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630843

Ccbe1 is required for embryonic lymphangiogenesis and venous sprouting

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630843

Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630843

Persistence of Müllerian derivatives and intestinal lymphangiectasis in two newborn brothers: confirmation of the Urioste syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630843

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630843

CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis

27 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS12881-015-0175-0

Lymphangiectasia with persistent Müllerian derivatives: confirmation of autosomal recessive Urioste syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25925991

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Persistence of müllerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly, renal and craniofacial anomalies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25925991

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S12881-015-0175-0

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25925991%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

10 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25925991%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25925991%20AND%20SRC:MED&resulttype=core&format=json