(Q45714513)

15 December 2017

title

Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype (English)

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Smith-Lemli-Opitz syndrome

15 December 2017

main subject

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Chitra Prasad

1

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15 December 2017

Sandra Marles

2

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15 December 2017

Asuri N Prasad

3

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15 December 2017

Sarah Nikkel

4

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15 December 2017

Sally Longstaffe

5

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15 December 2017

Deborah Peabody

6

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15 December 2017

Barry Eng

7

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15 December 2017

Sarah Wright

8

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15 December 2017

John S Waye

9

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15 December 2017

Małgorzata J M Nowaczyk

10

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15 December 2017

publication date

1 February 2002

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American Journal of Medical Genetics Part A

15 December 2017

published in

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15 December 2017

volume

108

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15 December 2017

issue

1

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15 December 2017

page(s)

64-68

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Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism

15 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10211

The Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10211

Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10211

Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10211

Computed tomography of the brain in the Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10211

The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10211

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10211

Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10211

Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10211

RSH (so-called Smith-Lemli-Opitz) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10211

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10211

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10211

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10211

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10211

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10211

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10211

The Smith-Lemli-Opitz syndrome. A detailed pathological study as a clue to a etiological heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10211

Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10211

MRI in Smith-Lemli-Opitz syndrome type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10211

21 January 2018

Identifiers

DOI

10.1002/AJMG.10211

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15 December 2017

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