CtIP Mutations Cause Seckel and Jawad Syndromes.

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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Bibliographic Details
Main Authors: Per Qvist, Pablo Huertas, Sonia Jimeno, Mette Nyegaard, Muhammad J Hassan, Stephen P Jackson, Anders D Børglum
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2011-10-01
Series:PLoS Genetics
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21998596/pdf/?tool=EBI

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