Discover Community Create You

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

Article

Atypical presentation of laryngo-onycho-cutaneous syndrome resulting from novel mutations in LAMA3A.

Clinical and experimental dermatology - 1 Jul 2021

Vodo D, Malchin N, DeRowe A, Sprecher E, Sarig O

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Laminin
Share to Mutation
Share to Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 33600006
DOI: 10.1111/ced.14575

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Atypical presentation of laryngo-onycho-cutaneous syndrome resulting from novel mutations in LAMA3A.PMID 33600006Read ↗

A novel mutation in LAMA3A gene in a child with laryngo-onycho-cutaneous syndrome from the Indian subcontinent.Semantic proximity Read ↗

[A pedigree study of laryngo-onycho-cutaneous syndrome with a novel mutation on LAMA3 gene].Semantic proximity Read ↗

A new homozygous nonsense mutation in<i>LAMA3A</i>underlying laryngo-onycho-cutaneous syndromeSemantic proximity Read ↗

Laryngo-onycho-cutaneous (-like) syndrome due to mutated Plectin.Semantic proximity Read ↗

Natural history and clinical outcome of junctional epidermolysis bullosa generalized intermediate due to a LAMA3 mutation.Semantic proximity Read ↗

An unusual N-terminal deletion of the laminin 3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndromeSemantic proximity Read ↗

A novel TP63 mutation in family with ADULT syndrome presenting with eczema and hypothelia.Semantic proximity Read ↗

The unique combination of dermatological and ocular phenotypes in Alström syndrome: severe presentation, early onset and two novel ALMS1 mutations.Semantic proximity Read ↗

Looking through the Glass: Microspherophakia with LTBP2 Mutation in Siblings.Semantic proximity Read ↗

Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum.Semantic proximity Read ↗

A Patient with Coarse Facial Features and Molecular Odyssey: Lessons Learned and Best Practice.Semantic proximity Read ↗

Novel mutation of OCRL1 in Lowe syndrome with multiple epidermal cysts.Semantic proximity Read ↗

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