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Biomedical subjects

C Brasnu

Publications and source records attributed to C Brasnu.

10 recordsLinked to original sources

["True" microcephaly with dominant-inheritance chorioretinal dysplasia].

Within the heterogeneous group of microcephalies, a syndrome can be defined characterized by microcephaly, mental retardation, and chorioretinal dysplasia, often also with microphtalmia and embryonic remnants such as persistance of the primitive vitreum. Although this condition is usually considered autosomal recessive, the authors report a family observation consistent with dominant transmission.

Adult↗

[Hereditary microcephaly with autosomal dominant chorioretinal dysplasia (author's transl)].

Within the heterogeneous group of microcephalies, a syndrome can be defined characterized by microcephaly, mental retardation, and chorioretinal dysplasia, often also with microphtalmia and embryonic remnants such as persistance of the primitive vitreum. Although this condition is usually considered autosomal recessive, the authors report a family observation consistent with dominant transmission.

Abnormalities, Multiple↗