A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene (Q82711794)

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17 January 2020

title

A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene (English)

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congenital generalized lipodystrophy

17 January 2020

main subject

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2

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17 January 2020

author name string

Hsiu-Hui Huang

1

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17 January 2020

Hui-Pin Hsiao

3

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17 January 2020

Chia-Tsuan Huang

4

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17 January 2020

Cheng-Chu Wang

5

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17 January 2020

Ya-Huei Shiau

6

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17 January 2020

Mei-Chyn Chao

7

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17 January 2020

publication date

1 November 2010

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Kaohsiung Journal of Medical Sciences

17 January 2020

published in

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17 January 2020

volume

26

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17 January 2020

issue

11

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17 January 2020

page(s)

615-620

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17 January 2020

1 reference

https://api.crossref.org/works/10.1016%2FS1607-551X%2810%2970094-2

7 January 2021

Radiological features in generalized lipodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1607-551X%2810%2970094-2

7 January 2021

A Gene for Congenital Generalized Lipodystrophy Maps to Human Chromosome 9q34

1 reference

https://api.crossref.org/works/10.1016%2FS1607-551X%2810%2970094-2

7 January 2021

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

1 reference

https://api.crossref.org/works/10.1016%2FS1607-551X%2810%2970094-2

7 January 2021

Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS1607-551X%2810%2970094-2

7 January 2021

Prevalence of mutations in AGPAT2 among human lipodystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS1607-551X%2810%2970094-2

7 January 2021

Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1607-551X%2810%2970094-2

7 January 2021

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1607-551X%2810%2970094-2

7 January 2021

AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.

1 reference

https://api.crossref.org/works/10.1016%2FS1607-551X%2810%2970094-2

7 January 2021

Phenotypic Heterogeneity in Body Fat Distribution in Patients with Congenital Generalized Lipodystrophy Caused by Mutations in the AGPAT2 or Seipin Genes

1 reference

https://api.crossref.org/works/10.1016%2FS1607-551X%2810%2970094-2

7 January 2021

Complementary mutations in seipin gene in a patient with Berardinelli-Seip congenital lipodystrophy and dystonia: phenotype variability suggests multiple roles of seipin gene.

1 reference

https://api.crossref.org/works/10.1016%2FS1607-551X%2810%2970094-2

7 January 2021

Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene

1 reference

https://api.crossref.org/works/10.1016%2FS1607-551X%2810%2970094-2

7 January 2021

Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene

1 reference

https://api.crossref.org/works/10.1016%2FS1607-551X%2810%2970094-2

7 January 2021

Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS1607-551X%2810%2970094-2

7 January 2021

Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus

1 reference

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7 January 2021

Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation

1 reference

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7 January 2021

Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS1607-551X%2810%2970094-2

7 January 2021

Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL).

1 reference

https://api.crossref.org/works/10.1016%2FS1607-551X%2810%2970094-2

7 January 2021

Nephromegaly and elevated plasma hepatocyte growth factor-transforming growth factor-beta1 ratio in infants with fulminant hepatitis or biliary atresia

1 reference

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7 January 2021

10.1016/S1607-551X(10)70094-2

Identifiers

DOI

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17 January 2020

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