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The NEU‐COFS (cerebro‐oculo‐facio‐skeletal) syndrome: report of a case
Author(s) -
Silengo M. C.,
Davi G.,
Bianco R.,
Biagioli M.,
Franceschini P.,
Cavallo M.,
Bussi G.
Publication year - 1984
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.1399-0004.1984.tb00486.x
Subject(s) - phenotype , genetics , mutation , biology , cerebro , medicine , endocrinology , gene
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.