| Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia. | |
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MedLine Citation:
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PMID: 15770127 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A number of different disorders involving first and second branchial arch anomalies have been described as distinct entities, including Treacher-Collins-Franceschetti syndrome, Goldenhar syndrome, Nager syndrome and Miller syndrome. The significant phenotypic overlap between these disorders raises the issue of a common developmental origin. After the identification of mutations in TCOF1 as a general cause of the Treacher-Collins-Franceschetti syndrome, TCOF1 mutations were excluded in patients with unilateral signs of the Goldenhar syndrome spectrum. We also present two rare cases of bilateral Goldenhar syndrome and familial microtia with meatal atresia, respectively, in whom we also excluded TCOF1 mutations. Thus, genetic heterogeneity in different disorders of the first and second branchial arch development is supported. |
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Authors:
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Christian T Thiel; Frank Rosanowski; Jürgen Kohlhase; André Reis; Anita Rauch |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 14 ISSN: 0962-8827 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 2005 Apr |
Date Detail:
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Created Date: 2005-03-16 Completed Date: 2005-10-17 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: England |
Other Details:
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Languages: eng Pagination: 67-71 Citation Subset: IM |
Affiliation:
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Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nuremberg, Germany. Christian.Thiel@humgenet.uni-erlangen.de |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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DNA
/
chemistry,
genetics DNA Mutational Analysis Ear, External / abnormalities* Face / abnormalities Goldenhar Syndrome / genetics*, pathology Heterozygote Humans Infant Male Mutation / genetics Nuclear Proteins / genetics* Phosphoproteins / genetics* Polymorphism, Genetic / genetics |
| Chemical | |
Reg. No./Substance:
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0/Nuclear Proteins; 0/Phosphoproteins; 0/TCOF1 protein, human; 9007-49-2/DNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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