ID
45027
Beskrivning
Principal Investigator: Michael Cunningham, MD, PhD, University of Washington, Seattle, WA, USA MeSH: Auriculo-condylar syndrome https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000437 This project is part of an ongoing project to identify the molecular genetic basis of rare craniofacial disorders. This specific project involved the collection of DNA samples from four probands with severe manifestations of auriculocondylar syndrome and their parents. Detailed clinical phenotypic data is available on each proband. The sole purpose of this research is to identify the molecular cause(s) of auriculochondylar syndrome.
Länk
https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000437
Nyckelord
Versioner (2)
- 2022-07-22 2022-07-22 - Chiara Middel
- 2022-10-12 2022-10-12 - Adrian Schulz
Rättsinnehavare
Michael Cunningham, MD, PhD, University of Washington, Seattle, WA, USA
Uppladdad den
22 juli 2022
DOI
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Licens
Creative Commons BY 4.0
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dbGaP phs000437 Next Generation Mendelian Genetics: Auriculocondylar Syndrome (ACS)
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Eligibility Criteria
C0680251 (UMLS CUI [1,2])
C1865295 (UMLS CUI [1,2])
C0030551 (UMLS CUI [1,3])
C0205409 (UMLS CUI [2,1])
C0025990 (UMLS CUI [2,2])
C0205409 (UMLS CUI [3,1])
C0000768 (UMLS CUI [3,2])
C0013443 (UMLS CUI [3,3])