Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.

M Witsch-Baumgartner; E Ciara; J Löffler; H J Menzel; U Seedorf; J Burn; G Gillessen-Kaesbach; G F Hoffmann; B U Fitzky; H Mundy

doi:10.1038/sj.ejhg.5200579

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.

Identifier:nobleid.org/w1/20260515/CEC41EC4

Type:Journal Article

0 views

Support unavailableClaim Your Authorship

View Original Paper Source

Embeddable Badge

[![NobleID](https://www.nobleid.org/api/badge/CEC41EC4.svg?ark=w1%2F20260515%2FCEC41EC4)](https://nobleid.org/work/w1/20260515/CEC41EC4)

ARK Inflections

Metadata Policy

Metadata Formats

Bibliometric Analysis

Impact metrics, research fronts, co-authorship networks →

Authors & Claims

Paper Authors

Claim authorship of this work

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.

Identifier:nobleid.org/w1/20260515/CEC41EC4

Type:Journal Article

0 views

Support unavailableClaim Your Authorship

View Original Paper Source

Embeddable Badge

[![NobleID](https://www.nobleid.org/api/badge/CEC41EC4.svg?ark=w1%2F20260515%2FCEC41EC4)](https://nobleid.org/work/w1/20260515/CEC41EC4)

ARK Inflections

Metadata Policy

Metadata Formats

Bibliometric Analysis

Impact metrics, research fronts, co-authorship networks →

Authors & Claims

Paper Authors

Claim authorship of this work