Clinical characteristics and diagnosis of Smith-Lemli-Opitz syndrome and tentative phenotype-genotype correlation: report of 45 cases (Q44485923)

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5 November 2019

title

Clinical characteristics and diagnosis of Smith-Lemli-Opitz syndrome and tentative phenotype-genotype correlation: report of 45 cases (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12818773%20AND%20SRC:MED&resulttype=core&format=json

Smith-Lemli-Opitz syndrome

5 November 2019

main subject

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inferred from title

author

Valérie Cormier-Daire

5

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5 November 2019

author name string

A Goldenberg

1

1 reference

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5 November 2019

F Chevy

2

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5 November 2019

C Bernard

3

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5 November 2019

C Wolf

4

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5 November 2019

publication date

1 January 2003

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5 November 2019

published in

Archives de Pediatrie

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5 November 2019

volume

10

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5 November 2019

issue

1

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5 November 2019

page(s)

4-10

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A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2803%2900214-8

7 January 2021

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

1 reference

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7 January 2021

Teratogen-mediated inhibition of target tissue response to Shh signaling

1 reference

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7 January 2021

Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings.

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2803%2900214-8

7 January 2021

Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2803%2900214-8

7 January 2021

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2803%2900214-8

7 January 2021

Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2803%2900214-8

7 January 2021

Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2803%2900214-8

7 January 2021

Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2803%2900214-8

7 January 2021

Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2803%2900214-8

7 January 2021

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2803%2900214-8

7 January 2021

Mutations in the human DHCR7 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2803%2900214-8

7 January 2021

Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2803%2900214-8

7 January 2021

Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0929-693X%2803%2900214-8

7 January 2021

10.1016/S0929-693X(03)00214-8

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12818773%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

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