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CtIP Mutations Cause Seckel and Jawad Syndromes

6 Oct 2011

Abstract excerpt

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 cellular responses to DNA damage. We previously mapped a Seckel syndrome locus to chromosome 18p11.31-q11.2 (SCKL2)....

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PMID: 21998596
DOI: 10.1371/journal.pgen.1002310

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