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Phenotype i Associated with Congenital Cataract in Japanese
Author(s) -
Ogata H.,
Okubo Y.,
Akabane T.
Publication year - 1979
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1046/j.1537-2995.1979.19279160286.x
Subject(s) - phenotype , medicine , pediatrics , clinical phenotype , genetics , gene , biology
A Japanese family with two siblings of phenotype i is presented. Both had a past history of surgical treatment for congenita] cataract. In Japan, 18 individuals of phenotype i, including our case, have been found in ten unrelated families. Seventeen of them had congenital cataract. Cataract was not found in any of the 45 phenotype I members in these families. It is briefly discussed why these two linked and quite rare genes were found in combination only in Japanese persons.