Next Generation Mendelian Genetics: Auriculochondylar syndrome (ACS)
Source: NCBI BioProject (ID PRJNA80193)

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Project name: Homo sapiens
Description: 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.
Relevance: Medical
Organization: NHGRI
Related RefSeq project: PRJNA80195