(Q53965197)

23 May 2018

title

Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman. (English)

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23 May 2018

congenital generalized lipodystrophy

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1 reference

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Anna Rajab

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23 May 2018

author name string

Kirsten Heathcote

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23 May 2018

Surendra Joshi

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23 May 2018

Steve Jeffery

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23 May 2018

Michael Patton

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23 May 2018

publication date

1 July 2002

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23 May 2018

American Journal of Medical Genetics Part A

published in

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23 May 2018

volume

110

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23 May 2018

issue

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23 May 2018

page(s)

219-225

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23 May 2018

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10437

An undiagnosed endocrinometabolic syndrome: report of 2 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10437

Structure and mapping of the G protein gamma3 subunit gene and a divergently transcribed novel gene, gng3lg

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10437

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10437

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10437

GENERALIZED LIPODYSTROPHY.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10437

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10437

Congenital total lipodystrophy and peripheral pulmonary artery stenosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10437

Percussion myoedema in a Pakistani boy with Berardinelli Seip lipodystrophy syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10437

Partial lipodystrophy and familial C3 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10437

21 January 2018

Identifiers

DOI

10.1002/AJMG.10437

1 reference

23 May 2018

1 reference

23 May 2018