Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1

Journal article

Peer reviewed

Kara Goodin, Sandra Prucka, Audie L Woolley, Juergen Kohlhase, Richard J H Smith, John Grant and Nathaniel H Robin

American journal of medical genetics. Part A, Vol.149A(3), pp.535-538

03/2009

DOI: 10.1002/ajmg.a.32673

PMID: 19213029

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Case report

Family

Mutation

Humans

Goldenhar Syndrome - genetics

Infant

Transcription Factors - genetics

Young Adult

Protein Tyrosine Phosphatases - genetics

Pedigree

Adolescent

Female

Nuclear Proteins - genetics

Intracellular Signaling Peptides and Proteins - genetics

Title: Subtitle: Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1
Creators: Kara Goodin - Department of Genetics, University of Alabama, Birmingham, Alabama, USA
Sandra Prucka
Audie L Woolley
Juergen Kohlhase
Richard J H Smith
John Grant
Nathaniel H Robin
Resource Type: Journal article
Publication Details: American journal of medical genetics. Part A, Vol.149A(3), pp.535-538
DOI: 10.1002/ajmg.a.32673
PMID: 19213029
NLM abbreviation: Am J Med Genet A
ISSN: 1552-4825
eISSN: 1552-4833
Publisher: United States
Language: English
Date published: 03/2009
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984006302202771

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