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pro vyhledávání: '"Mike J, Bamshad"'
Autor:
Jingjing, Li, Wei, Yang, Yuejun Jessie, Wang, Chen, Ma, Cynthia J, Curry, Daniel, McGoldrick, Deborah A, Nickerson, Jessica X, Chong, Elizabeth E, Blue, James C, Mullikin, Jennita, Reefhuis, Wendy N, Nembhard, Paul A, Romitti, Martha M, Werler, Marilyn L, Browne, Andrew F, Olshan, Richard H, Finnell, Marcia L, Feldkamp, Faith, Pangilinan, Lynn M, Almli, Mike J, Bamshad, Lawrence C, Brody, Mary M, Jenkins, Gary M, Shaw
Publikováno v:
American Journal of Medical Genetics Part A. 188:2376-2388
Anophthalmia and microphthalmia (A/M) are rare birth defects affecting up to 2 per 10,000 live births. These conditions are manifested by the absence of an eye or reduced eye volumes within the orbit leading to vision loss. Although clinical case ser