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Holoprosencephaly 9
- ... mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. J Med Genet. 2013 Sep;50(9):585-92. doi: 10.1136/jmedgenet-2013-101603. ...
- ... Robson J, Norris D, Arkell RM. Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation. Hum Mol Genet. 2008 Oct 1;17(19):2986-96. doi: 10.1093/hmg/ddn197. Epub 2008 Jul 9. Citation on PubMed
- ... additional genes in the deleted region of chromosome 9. More About This Health Condition At least seven mutations in the PTCH1 gene have been found to cause nonsyndromic holoprosencephaly. This condition occurs when the brain fails to ...