(Q21093174)

Dimensions Publication ID

Dimensions

1015608756

15 August 2022

Yasemin Alanay

series ordinal

2

author given names

Yasemin

author last names

Alanay

1 reference

Dimensions Publication ID

Dimensions

1015608756

Orphanet Journal of Rare Diseases

15 August 2022

language of work or name

English

0 references

publication date

1 June 2006

2 references

13 March 2019

11 October 2019

2 references

13 March 2019

11 October 2019

1

0 references

issue

1

0 references

page(s)

20

0 references

copyright license

Creative Commons Attribution 2.0 Generic

2 references

Europe PubMed Central

13 March 2019

Europe PubMed Central

on focus list of Wikimedia project

11 October 2019

copyright status

copyrighted

0 references

ScienceSource

0 references

cites work

The molecular genetics of Marfan syndrome and related microfibrillopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1524931

Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1524931

Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1524931

Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1524931

Congenital contractural arachnodactyly. Report of four additional families and review of literature

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1524931

Ocular findings of Beals syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1524931

Congenital contractural arachnodactyly and femoral fracture in a newborn infant: a causal relationship or a coincidence?

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16740166

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Congenital contractural arachnodactyly. A heritable disorder of connective tissue

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16740166

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-1-20

1 reference

Dimensions Publication ID

1015608756

0 references

1 reference

1 reference

PubMed publication ID

16740166

1 reference