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Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome.

In a continuing study on the aetiology of Silver-Russell syndrome (SRS), we detected a patient with a heterozygous deletion in the growth hormone gene cluster (17q22-q24). The deletion of the chorionic somatomammotrophin hormone 1 (CSH1) gene was inherited from the patient's father. The patient...

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Detalhes bibliográficos
Main Authors: Eggermann, T, Eggermann, K, Mergenthaler, S, Kuner, R, Kaiser, P, Ranke, M B, Wollmann, H A
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051436/
https://ncbi.nlm.nih.gov/pubmed/9733042
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