The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations (vol 18, pg 1143, 2016)

被引:2
|
作者
Chen, Chun-An
Bosch, Danielle G. M.
Cho, Megan T.
Rosenfeld, Jill A.
Shinawi, Marwan
Lewis, Richard Alan
Mann, John
Jayakar, Parul
Payne, Katelyn
Walsh, Laurence
Moss, Timothy
Schreiber, Allison
Schoonveld, Cheri
Monaghan, Kristin G.
Elmslie, Frances
Douglas, Ganka
Boonstra, F. Nienke
Millan, Francisca
Cremers, Frans P. M.
McKnight, Dianalee
Richard, Gabriele
Juusola, Jane
Kendall, Fran
Ramsey, Keri
Anyane-Yeboa, Kwame
Malkin, Elfrida
Chung, Wendy K.
Niyazov, Dmitriy
Pascual, Juan M.
Walkiewicz, Magdalena
Veluchamy, Vivekanand
Li, Chumei
Hisama, Fuki M.
de Vries, Bert B. A.
Schaaf, Christian
机构
关键词
D O I
10.1038/gim.2017.12
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:962 / 962
页数:1
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