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Article

A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome.

Clinical dysmorphology - 1 Jul 2017

Altiner Şule, Karabulut Halil G, Yararbaş Kanay, Tükün Ajlan, Collet Corinne, Kocaay Pinar, Berberoğlu Merih, Ilgin Ruhi Hatice

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27870659
DOI: 10.1097/MCD.0000000000000162

Genes

TWIST1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome.PMID 27870659Read ↗

Mutations in the human TWIST gene.Semantic proximity Read ↗

Mutations of the TWIST gene in the Saethre-Chotzen syndrome.Semantic proximity Read ↗

The TWIST2 mutation causes Setleis syndrome: a rare clinical case report.Semantic proximity Read ↗

Saethre-Chotzen syndrome: a case report.Semantic proximity Read ↗

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.Semantic proximity Read ↗

Saethre-Chotzen syndrome and hyper IgE syndrome in a patient with a novel 11 bp deletion of the TWIST gene.Semantic proximity Read ↗

Functional analysis of natural mutations in two TWIST protein motifs.Semantic proximity Read ↗

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.Semantic proximity Read ↗

An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription.Semantic proximity Read ↗

Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations.Semantic proximity Read ↗

Saethre–Chotzen syndrome with an atypical phenotype: identification of TWIST microdeletion by array CGH.Semantic proximity Read ↗

Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.Semantic proximity Read ↗

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