Variable phenotype of Pierson syndrome (Q38502260)

3 September 2017

Variable phenotype of Pierson syndrome (English)

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3 September 2017

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9

Martin Zenker

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3 September 2017

Hyun Jin Choi

1

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3 September 2017

Beom Hee Lee

2

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3 September 2017

Ju Hyung Kang

3

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3 September 2017

Hyoen Joo Jeong

4

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3 September 2017

Kyung Chul Moon

5

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3 September 2017

Il Soo Ha

6

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3 September 2017

Young Suk Yu

7

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3 September 2017

Verena Matejas

8

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3 September 2017

Yong Choi

10

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3 September 2017

Hae Il Cheong

11

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3 September 2017

1 June 2008

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3 September 2017

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3 September 2017

23

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3 September 2017

6

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3 September 2017

995-1000

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https://scigraph.springernature.com/pub.10.1007/s00467-008-0748-7

3 September 2017

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cites work

Respiratory chain deficiency presenting as congenital nephrotic syndrome.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00467-008-0748-7

Role of nephrin in cell junction formation in human nephrogenesis

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00467-008-0748-7

Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities

21 January 2018

1 reference

12 December 2020

Nephrotic syndrome in the 1st year of life

1 reference

12 December 2020

Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glycoprotein syndrome

1 reference

12 December 2020

Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome

1 reference

12 December 2020

Distribution of Laminins in the Developing Human Eye

1 reference

12 December 2020

The renal glomerulus of mice lacking s-laminin/laminin beta 2: nephrosis despite molecular compensation by laminin beta 1

1 reference

12 December 2020

Building the glomerulus: a matricentric view

1 reference

12 December 2020

A milder variant of Pierson syndrome.

1 reference

12 December 2020

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

1 reference

12 December 2020

Hereditary onycho-osteodysplasia (the nail-patella syndrome) with nephrosis-like renal disease in a newborn boy

1 reference

12 December 2020

Pierson syndrome: a novel cause of congenital nephrotic syndrome

1 reference

12 December 2020

A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2

1 reference

12 December 2020

[AN UNUSUAL CONGENITAL AND FAMILIAL CONGENITAL MALFORMATIVE COMBINATION INVOLVING THE EYE AND KIDNEY.]

1 reference

12 December 2020

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders

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12 December 2020

Renal basement membrane components

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12 December 2020

Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago

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12 December 2020

Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).

1 reference

12 December 2020

Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome

1 reference

12 December 2020

10.1007/S00467-008-0748-7

Identifiers

DOI

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Dimensions Publication ID

3 September 2017

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