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Clinical anophthalmos in a family
Author(s) -
Sensi A.,
Incorvaia C.,
Sebastiani A.,
Calzolari E.
Publication year - 1987
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1987.tb03346.x
Subject(s) - penetrance , genetic counseling , medicine , genetics , congenital disease , biology , phenotype , gene
Monolateral or bilateral anophthalmos recurring in the absence of other associated defects in six members of a family is reported. The malformation appears to be inherited as a dominant (autosomal or X‐linked) trait with incomplete penetrance. Implications for genetic counselling are briefly discussed.