Fraser syndrome due to homozygosity for a splice site mutation of FREM2.
Shafeghati
Yousef
Y
Genetics Research Center, University of Social Welfare & Rehabilitation Sciences, Tehran, Iran.
Kniepert
Andrea
A
Vakili
Ghazal
G
Zenker
Martin
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001483:Base Sequence; D003241:Consanguinity; D004252:DNA Mutational Analysis; D020964:Embryo Loss / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005124:Eye Abnormalities / Q000150:complications / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D011247:Pregnancy; D022821:RNA Splice Sites / Q000235:genetics*; D013576:Syndactyly / Q000150:complications / Q000235:genetics; D013577:Syndrome
D016326:Extracellular Matrix Proteins; C500786:FREM2 protein, human; D022821:RNA Splice Sites