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The Neu-COFS (cerebro-oculo-facio-skeletal) syndrome: report of a case.

Authors :
Silengo MC
Davi G
Bianco R
Biagioli M
Franceschini P
Cavallo M
Bussi G
Source :
Clinical genetics [Clin Genet] 1984 Feb; Vol. 25 (2), pp. 201-4.
Publication Year :
1984

Abstract

A newborn female with a phenotype intermediate between the Neu and the COFS syndromes is described. The hypothesis of the two conditions representing different degrees of severity of the same autosomal recessive mutation in the homozygote state is discussed.

Subjects

Subjects :
Adult
Facial Expression
Female
Genes, Recessive
Humans
Infant, Newborn
Phenotype
Pregnancy
Syndrome
Abnormalities, Multiple genetics
Contracture genetics
Joints abnormalities
Microcephaly genetics

Details

Language :
English
ISSN :
0009-9163
Volume :
25
Issue :
2
Database :
MEDLINE
Journal :
Clinical genetics
Publication Type :
Academic Journal
Accession number :
6705255
Full Text :
https://doi.org/10.1111/j.1399-0004.1984.tb00486.x
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