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Dokumenttyp:
journal article 
Autor(en):
Beleggia, Filippo; Li, Yun; Fan, Jieqing; Elcio?lu, Nursel H; Toker, Ebru; Wieland, Thomas; Maumenee, Irene H; Akarsu, Nurten A; Meitinger, Thomas; Strom, Tim M; Lang, Richard; Wollnik, Bernd 
Titel:
CRIM1 haploinsufficiency causes defects in eye development in human and mouse. 
Abstract:
Colobomatous macrophthalmia with microcornea syndrome (MACOM, Online Mendelian Inheritance in Man (OMIM) 602499) is an autosomal dominantly inherited malformation of the eye, which is characterized by microcornea with increased axial length, coloboma of the iris and of the optic disc, and severe myopia. We performed whole-exome sequencing (WES) in two affected individuals from the 2p23-p16-linked MACOM family, which includes 13 affected individuals in 3 generations. As no shared novel variation...    »
 
Zeitschriftentitel:
Hum Mol Genet 
Jahr:
2015 
Band / Volume:
24 
Heft / Issue:
Seitenangaben Beitrag:
2267-73 
Sprache:
eng 
Print-ISSN:
0964-6906 
TUM Einrichtung:
Institut für Humangenetik