Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration.
West
B
B
Department of Pediatrics, University of California, San Francisco, California 94143-0748, USA.
Bove
K E
KE
Slavotinek
A M
AM
D000015:Abnormalities, Multiple / Q000235:genetics*; D000853:Anophthalmos / Q000235:genetics*; D003965:Diaphragmatic Eventration / Q000235:genetics*; D004200:Diseases in Twins / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D011247:Pregnancy
D008565:Membrane Proteins; C519685:STRA6 protein, human