CtIP Mutations Cause Seckel and Jawad Syndromes

Seckel syndrome is a recessively inherited dwarfism disorder characterized by microcephaly and a unique head profile. Genetically, it constitutes a heterogeneous condition, with several loci mapped (SCKL1-5) but only three disease genes identified: the ATR, CENPJ, and CEP152 genes that control cellu...

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Bibliografiske detaljer
Main Authors: Qvist, Per, Huertas, Pablo, Jimeno, Sonia, Nyegaard, Mette, Hassan, Muhammad J., Jackson, Stephen P., Børglum, Anders D.
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2011
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3188555/
https://ncbi.nlm.nih.gov/pubmed/21998596
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1002310
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