G2Cdb::Human Disease report

Disease id
D00000311
Name
Silver-Russell syndrome
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001388 GRB2
growth factor receptor-bound protein 2
N (11897833) No mutation found (N) N
G00001388 GRB2
growth factor receptor-bound protein 2
N (11359473) Unknown (?) N

References

  • Investigation of the GRB2, GRB7, and CSH1 genes as candidates for the Silver-Russell syndrome (SRS) on chromosome 17q.

    Hitchins MP, Abu-Amero S, Apostolidou S, Monk D, Stanier P, Preece MA and Moore GE

    Journal of medical genetics 2002;39;3;E13

  • IRS1 and GRB2 as members of the IGF signal transduction pathway are not associated with intrauterine growth retardation and Silver-Russell syndrome.

    Eggermann T, Kloos P, Mergenthaler S, Eggermann K, Dobos M, Ranke M and Wollmann H

    Clinical genetics 2001;59;5;371-3

Literature (2)

Pubmed - human_disease

  • IRS1 and GRB2 as members of the IGF signal transduction pathway are not associated with intrauterine growth retardation and Silver-Russell syndrome.

    Eggermann T, Kloos P, Mergenthaler S, Eggermann K, Dobos M, Ranke M and Wollmann H

    Clinical genetics 2001;59;5;371-3

Pubmed - other

  • Investigation of the GRB2, GRB7, and CSH1 genes as candidates for the Silver-Russell syndrome (SRS) on chromosome 17q.

    Hitchins MP, Abu-Amero S, Apostolidou S, Monk D, Stanier P, Preece MA and Moore GE

    Journal of medical genetics 2002;39;3;E13

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EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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