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Prenatal diagnosis of Löwe'S syndrome: A case report with evidence of de novo mutation
Author(s) -
Gazit E.,
Brand N.,
Harel Y.,
Lotan D.,
Barkai G.
Publication year - 1990
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970100408
Subject(s) - genetics , prenatal diagnosis , mutation , restriction fragment length polymorphism , medicine , chromosome , biology , gene , fetus , pregnancy , polymerase chain reaction
A case of oculocerebrorenal (Löwe) syndrome is presented in which analysis of the pattern of RFLP suggested that the gene originally mutated in the grandfather' s X‐chromosome and became clinically apparent in one of his male grandsons.
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