Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene (Q30165499)

9 June 2017

title

Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene (English)

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9 June 2017

Lebel RR

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9 June 2017

May M

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9 June 2017

Pouls S

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9 June 2017

Lubs HA

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9 June 2017

Stevenson RE

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9 June 2017

Schwartz CE

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9 June 2017

publication date

1 February 2002

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9 June 2017

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9 June 2017

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9 June 2017

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9 June 2017

page(s)

139-145

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9 June 2017

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MECP2 is highly mutated in X-linked mental retardation

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A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome)

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inferred from DOI database lookup

7 January 2021

based on heuristic

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

inferred from DOI database lookup

7 January 2021

based on heuristic

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1034/J.1399-0004.2002.610209.X

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9 June 2017

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