PORCN mutations in focal dermal hypoplasia: coping with lethality.

doi:10.1002/humu.20992

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

PORCN mutations in focal dermal hypoplasia: coping with lethality.

Human mutation - 1 May 2009

Bornholdt Dorothea, Oeffner Frank, König Arne, Happle Rudolf, Alanay Yasemin, Ascherman Jeffrey, Benke Paul J, Boente María del Carmen, van der Burgt Ineke, Chassaing Nicolas, Ellis Ian, Francisco Christina Raissa I, Della Giovanna Patricia, Hamel Ben, Has Cristina, Heinelt Kaatje, Janecke Andreas, Kastrup Wolfgang, Loeys Bart, Lohrisch Ingo, Marcelis Carlo, Mehraein Yasmin, Nicolas Marie Eleanore O, Pagliarini Dana, Paradisi Mauro, Patrizi Annalisa, Piccione Maria, Piza-Katzer Hildegunde, Prager Bettina, Prescott Katrina, Strien Juliane, Utine G Eda, Zeller Marc S, Grzeschik Karl-Heinz

Abstract excerpt

The X-linked dominant trait focal dermal hypoplasia (FDH, Goltz syndrome) is a developmental defect with focal distribution of affected tissues due to a block of Wnt signal transmission from cells carrying a detrimental PORCN mutation on an active X-chromosome. Molecular characterization of 24 unrelated patients from different ethnic backgrounds revealed 23 different mutations of the PORCN gene in Xp11.23. Three...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acyltransferases

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Amino Acid Sequence

Share to Child, Preschool

Share to DNA Mutational Analysis

Share to Infant

Share to Infant, Newborn

Share to Membrane Proteins

Share to Protein Isoforms

Source

Open in PubMed

Identifiers

PMID: 19309688
DOI: 10.1002/humu.20992

Genes

PORCN
EBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

PORCN mutations in focal dermal hypoplasia: coping with lethality.PMID 19309688Read ↗

PORCN gene mutations and the protean nature of focal dermal hypoplasia.Semantic proximity Read ↗

A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia.Semantic proximity Read ↗

Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.Semantic proximity Read ↗

Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome).Semantic proximity Read ↗

Novel PORCN mutations in focal dermal hypoplasia.Semantic proximity Read ↗

Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.Semantic proximity Read ↗

Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene.Semantic proximity Read ↗

Focal dermal hypoplasia without focal dermal hypoplasia.Semantic proximity Read ↗

PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing.Semantic proximity Read ↗

Deletion of mouse <i>Porcn</i> blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndromeSemantic proximity Read ↗

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.Semantic proximity Read ↗

Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single-Center Report.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.