(Q55057382)

16 June 2018

title

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

1 reference

16 June 2018

6

Takao Takahashi

1 reference

16 June 2018

author name string

Toshiki Takenouchi

1

1 reference

16 June 2018

Mariko Hida

2

1 reference

16 June 2018

Yoshiaki Sakamoto

3

1 reference

16 June 2018

Chiharu Torii

4

1 reference

16 June 2018

Rika Kosaki

5

1 reference

16 June 2018

Kenjiro Kosaki

7

1 reference

16 June 2018

language of work or name

English

0 references

publication date

16 August 2013

1 reference

16 June 2018

American Journal of Medical Genetics

number of pages

6

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

16 June 2018

volume

161A

1 reference

16 June 2018

issue

12

1 reference

16 June 2018

page(s)

3057-3062

1 reference

16 June 2018

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36157

Fibrillin-1 regulates the bioavailability of TGFbeta1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36157

Marfan Database (third edition): new mutations and new routines for the software

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36157

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36157

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.36157

Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36157

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36157

Molecular pathology of Shprintzen-Goldberg syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36157

Aneurysm syndromes caused by mutations in the TGF-beta receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36157

Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36157

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.36157

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36157

1 reference

16 June 2018

PubMed ID

24039054

1 reference

16 June 2018