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Chorio‐retinal dysplasia, microcephaly and mental retardation. An autosomal dominant syndrome
Author(s) -
Tenconi Romano,
Clementi Maurizio,
Moschini G. Battista,
Casara Gianluca,
Baccichetti Carlo
Publication year - 1981
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.1399-0004.1981.tb01046.x
Subject(s) - microcephaly , dysplasia , genetics , medicine , retinal , biology , ophthalmology
A condition is described which is characterized by chorio‐retinal dysplasia, microcephaly and mental retardation, transmitted in an autosomal dominant fashion with variable expressivity. It is suggested that this condition is a distinct autosomal dominant syndrome.