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Unusual Splice-Site Mutations in the RSK2 Gene and Suggestion of Genetic Heterogeneity in Coffin-Lowry Syndrome

Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation that is characterized, in male patients, by psychomotor and growth retardation and various skeletal anomalies. Typical facial changes and specific clinical and radiological hand aspects exhibited by patients are essential...

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Bibliografski detalji
Glavni autori: Zeniou, Maria, Pannetier, Solange, Fryns, Jean-Pierre, Hanauer, André
Format: Artigo
Jezik:Inglês
Izdano: The American Society of Human Genetics 2002
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC379129/
https://ncbi.nlm.nih.gov/pubmed/11992250
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