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Article

Mutational screening of BASP1 and transcribed processed pseudogene TPPsig-BASP1 in patients with Möbius syndrome.

Journal of genetics and genomics = Yi chuan xue bao - 1 Apr 2009

Uzumcu Abdullah, Candan Sukru, Toksoy Guven, Uyguner Z Oya, Karaman Birsen, Eris Hacer, Tatli Burak, Kayserili Hulya, Yuksel Adnan, Geckinli Bilge, Yuksel-Apak Memnune, Basaran Seher

Abstract excerpt

Möbius syndrome is a rare disorder primarily characterized by congenital facial palsy, frequently accompanied by ocular abduction anomalies and occasionally associated with orofacial, limb and musculoskeletal malformations. Abnormal development of cranial nerves V through XII underlines the disease pathogenesis. Although a genetic etiology for Möbius syndrome was proposed, molecular genetic studies to identify...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19376485
DOI: 10.1016/S1673-8527(08)60112-5

Genes

BASP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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