Prenatal diagnosis of Löwe'S syndrome: A case report with evidence of de novo mutation

E. Gazit; N. Brand; Y. Harel; D. Lotan; G. Barkai

doi:10.1002/pd.1970100408

Prenatal diagnosis of Löwe'S syndrome: A case report with evidence of de novo mutation

E. Gazit^*, N. Brand, Y. Harel, D. Lotan, G. Barkai

^*Corresponding author for this work

Sheba Medical Center at Tel Hashomer

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	257-260
Number of pages	4
Journal	Prenatal Diagnosis
Volume	10
Issue number	4
DOIs	https://doi.org/10.1002/pd.1970100408
State	Published - Apr 1990
Externally published	Yes

Keywords

Löwe syndrome
New mutation
X‐linkage

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10.1002/pd.1970100408

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title = "Prenatal diagnosis of L{\"o}we'S syndrome: A case report with evidence of de novo mutation",

abstract = "A case of oculocerebrorenal (L{\"o}we) 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.",

keywords = "L{\"o}we syndrome, New mutation, X‐linkage",

author = "E. Gazit and N. Brand and Y. Harel and D. Lotan and G. Barkai",

year = "1990",

month = apr,

doi = "10.1002/pd.1970100408",

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AU - Gazit, E.

AU - Brand, N.

AU - Harel, Y.

AU - Lotan, D.

AU - Barkai, G.

PY - 1990/4

Y1 - 1990/4

N2 - 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.

AB - 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.

KW - Löwe syndrome

KW - New mutation

KW - X‐linkage

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SN - 0197-3851

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EP - 260

JO - Prenatal Diagnosis

JF - Prenatal Diagnosis

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ER -

Prenatal diagnosis of Löwe'S syndrome: A case report with evidence of de novo mutation

Abstract

Keywords

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