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

[MEGDEL syndrome with an SERAC1 mutation: a case report].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 4 May 2017

Chen J, Peng J, Yin F

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 Syndrome
Share to Carboxylic Ester Hydrolases
Share to Metabolism, Inborn Errors
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 28482397
DOI: 10.3760/cma.j.issn.0578-1310.2017.05.020

Genes

SERAC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[MEGDEL syndrome with an SERAC1 mutation: a case report].PMID 28482397Read ↗

[Clinical and molecular genetic analysis of a case of MEGDEL syndrome].Semantic proximity Read ↗

MEGDEL Syndrome: Expanding the Phenotype and New Mutations.Semantic proximity Read ↗

Alagille syndrome with atypical phenotype diagnosed by molecular tests: unreported JAG1 mutation.Semantic proximity Read ↗

Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation.Semantic proximity Read ↗

SERAC1 gene mutation presented with markedly alpha fetoprotein elevation: case report.Semantic proximity Read ↗

[Identification of a novel JAG1 mutation in a family affected by Alagille syndrome].Semantic proximity Read ↗

Patient with an EYA1 mutation with features of branchio-oto-renal and oto-facio-cervical syndrome.Semantic proximity Read ↗

Gene symbol: JAG1. Disease: Alagille syndrome.Semantic proximity Read ↗

Gene symbol: JAG1. Disease: Alagille syndrome.Semantic proximity Read ↗

[Wiskott-Aldrich syndrome with special phenotypes: report of 3 cases].Semantic proximity Read ↗

[Alagille syndrome associated to JAG1 gene deletion. An unusual etiology].Semantic proximity Read ↗

[A case of severe congential neutropenia induced by ELA2 gene mutation].Semantic proximity Read ↗

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