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Article

Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.

American journal of medical genetics. Part A - 1 Jun 2017

Takenouchi Toshiki, Miwa Tomoru, Sakamoto Yoshiaki, Sakaguchi Yuri, Uehara Tomoko, Takahashi Takao, Kosaki Kenjiro

Abstract excerpt

Heterozygous truncating mutations in ADNP are associated with a syndromic form of intellectual disability known as Helsmoortel-van der Aa syndrome. Among 17 previously reported patients with Helsmoortel-van der Aa syndrome, one patient exhibited blepharophimosis. Whether blepharophimosis represents a phenotypic expression of the ADNP mutation spectrum or a chance association remains unclear. Herein, we report...

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Source

Identifiers

PMID: 28407407
DOI: 10.1002/ajmg.a.38126

Genes

ADNP

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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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