Prenatal diagnosis and identification of heterozygous frameshift mutation in PRRX1 in an infant with agnathia-otocephaly.
Meghan
M
Donnelly
Emily
E
Todd
Marsha
M
Wheeler
Virginia D
VD
Winn
Deepak
D
Kamnasaran
D000818:Animals; D019556:COS Cells; D002522:Chlorocebus aethiops; D019465:Craniofacial Abnormalities / Q000150:complications / Q000235:genetics*; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D016368:Frameshift Mutation / Q000502:physiology; D006579:Heterozygote; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007569:Jaw Abnormalities / Q000150:complications / Q000235:genetics*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
D018398:Homeodomain Proteins; C082157:PRRX1 protein, human