Comparative expression patterns of CHD7, TBX1, FOXG1b (BF1), DLX5 and FGF10 during human craniofacial development

Damien Sanlaville, Heather Etchevers, Mathieu Clément-Ziza, Géraldine Goudefroye, Sophie Audollent, Eric Detrait, Tania Attié-Bitach & Michel Vekemans
The CHARGE syndrome describes a particular association of embryonic malformations including ocular coloboma, heart disease, choanal atresia, retarded growth and/or anomalies of the central nervous system, genito-urinary defects and/or hypogonadism, and ear anomalies and/or deafness. Other major clinical criteria have also been described such as semicircular canal hypoplasia and arhinencephaly. The etiology of this syndrome was unknown until CHD7 was identified as responsible for over half of CHARGE cases when mutated. In the meantime, we...
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