LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix (Q55670705)

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30 January 2020

title

LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix (English)

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30 January 2020

13

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30 January 2020

author name string

Ramona Haji-Seyed-Javadi

1

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30 January 2020

Sahar Jelodari-Mamaghani

2

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30 January 2020

Seyed Hassan Paylakhi

3

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30 January 2020

Shahin Yazdani

4

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30 January 2020

Naveed Nilforushan

5

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30 January 2020

Jian-Bing Fan

6

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30 January 2020

Brandy Klotzle

7

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30 January 2020

Mohammad Jafar Mahmoudi

8

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30 January 2020

Mohammad Jafar Ebrahimian

9

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30 January 2020

Noori Chelich

10

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30 January 2020

Ehsan Taghiabadi

11

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30 January 2020

Kambiz Kamyab

12

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30 January 2020

Coro Paisan-Ruiz

14

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30 January 2020

Mostafa Ronaghi

15

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30 January 2020

Elahe Elahi

16

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30 January 2020

language of work or name

English

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publication date

29 May 2012

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30 January 2020

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30 January 2020

volume

33

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30 January 2020

page(s)

1182-1187

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30 January 2020

issue

8

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Null mutations in LTBP2 cause primary congenital glaucoma

30 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22105

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

21 January 2018

1 reference

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ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome

21 January 2018

1 reference

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LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

21 January 2018

1 reference

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Pathophysiology of zonular diseases

21 January 2018

1 reference

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Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22105

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22105

Bovine latent transforming growth factor beta 1-binding protein 2: molecular cloning, identification of tissue isoforms, and immunolocalization to elastin-associated microfibrils

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22105

Mapping of the disease locus and identification of ADAMTS10 as a candidate gene in a canine model of primary open angle glaucoma

21 January 2018

1 reference

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The revised Ghent nosology for the Marfan syndrome

21 January 2018

1 reference

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Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22105

The molecular genetics of Marfan syndrome and related disorders

21 January 2018

1 reference

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The molecular genetics of Marfan syndrome and related microfibrillopathies

21 January 2018

1 reference

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Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22105

Marfan's syndrome and the Weill-Marchesani syndrome in the S. family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22105

inferred from DOI database lookup

7 January 2021

based on heuristic

Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22105

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22105

1 reference

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30 January 2020

1 reference