Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome.
Raca
Gordana
G
State Laboratory of Hygiene, Madison, Wisconsin 53706, USA. racago@mail.slh.wisc.edu
Schimmenti
Lisa
L
Martin
Christa Lese
CL
D020816:Amino Acid Motifs; D001006:Anus, Imperforate / Q000235:genetics*; D051023:BH3 Interacting Domain Death Agonist Protein / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003103:Coloboma / Q000235:genetics*; D020440:Gene Duplication; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D053722:Receptors, Interleukin-17 / Q000235:genetics; D013577:Syndrome
D051023:BH3 Interacting Domain Death Agonist Protein; C494814:BID protein, human; C109985:IL17RA protein, human; D053722:Receptors, Interleukin-17