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Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu
Kraus, Cornelia, Uebe, Steffen, Thiel, Christian T., Ekici, Arif B., Reis, André, Zweier, ChristianeLanguage:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.40640
Date:
November, 2018
File:
PDF, 754 KB
english, 2018