Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: Exclusion ofSHH,TGIF,SIX3,GLI2,TP73L, andDHCR7as candidate genes
- 1 June 2009
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 149A (6), 1277-1279
- https://doi.org/10.1002/ajmg.a.32844
Abstract
We describe a Brazilian boy with semilobar holoprosencephaly, ectrodactyly, bilateral cleft of lip and palate, and severe mental retardation. The karyotype was normal and the screening for mutations in the genes SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 did not show any change. This rare condition was described previously in seven male patients. Clinical and genetic aspects are discussed.Keywords
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