(Q55057832)

16 June 2018

title

De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy. (English)

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16 June 2018

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2

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16 June 2018

author name string

Abhimanyu Garg

series ordinal

1

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16 June 2018

language of work or name

English

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publication date

24 March 2014

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16 June 2018

American Journal of Medical Genetics

published in

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16 June 2018

volume

164A

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16 June 2018

issue

5

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16 June 2018

page(s)

1341-1345

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16 June 2018

The fibrillin-1 gene: unlocking new therapeutic pathways in cardiovascular disease

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36449

Cardiovascular manifestations in men and women carrying a FBN1 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36449

Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36449

Dissecting the fibrillin microfibril: structural insights into organization and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36449

Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36449

Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36449

Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36449

Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24665001

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24665001

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24665001

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.36449

1 reference

16 June 2018

PMC publication ID

7597435

0 references

1 reference

16 June 2018