Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene
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Overview
status
publication date
- January 2009
has subject area
- 1103 Clinical Sciences (FoR)
- Genetics & Heredity (Science Metrix)
- Humans (MeSH)
- Infant, Newborn (MeSH)
- Male (MeSH)
- Mandibulofacial Dysostosis (MeSH)
- Mutation, Missense (MeSH)
- Syndrome (MeSH)
published in
- Clinical Dysmorphology Journal