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Article

Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes.

BMC medical genetics - 16 Dec 2009

Bardakjian Tanya M, Schneider Adele S, Ng David, Johnston Jennifer J, Biesecker Leslie G

Abstract excerpt

BACKGROUND: Anophthalmia and microphthalmia are etiologically and clinically heterogeneous. Lenz microphthalmia is a syndromic form that is typically inherited in an X-linked pattern, though the causative gene mutation is unknown. Townes-Brocks syndrome manifests thumb anomalies, imperforate anus, and ear anomalies. We present a 13-year-old boy with a syndromic microphthalmia phenotype and a clinical diagnosis of...

Topics

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Abnormalities, Multiple
Anus, Imperforate
Chromosomes, Human, Pair 16
DNA Copy Number Variations
Ear, External

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20003547
DOI: 10.1186/1471-2350-10-137
PMCID: PMC2806267

Genes

SALL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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