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Scientist: Research Projects: Human Craniofacial Mutation and Variation Database

The tables below list human craniofacial conditions and human genes. Both tables allow you to select a specific condition or gene and view the mutations associated with them.

The condition table also allows you to view the the OMIM entry for the condtion.

The gene table allows you to view multiple information sites on each gene.

Condition Craniofacial Mutations
Antley-Bixler Syndrome  
Apert Syndrome View Entry
Beare-Stevenson Cutis Gyrata Syndrome View Entry
Crouzon Syndrome View Entry
Hallermann-Streiff  
Hypochondroplasia  
Jackson-Weiss Syndrome View Entry
Muenke Syndrome  
Non-Sydromic Craniosynostosis View Entry
Oculodentodigital dysplasia View Entry
Pfeiffer Syndrome View Entry
Saethre-Chotzen syndrome View Entry
Syndactyly View Entry
Syndactyly, type III View Entry
Treacher Collins syndrome  
Unaffected View Entry
Gene Craniofacial Mutations GenBank HGMD
TWIST View Entry View Entry View Entry
FGFR1     View Entry
HOXA1   View Entry  
FGFR2 View Entry View Entry View Entry
FGFR3   View Entry View Entry
GJA1 (CX43) View Entry View Entry View Entry

Participation Researchers

Last Updated: 11/24/03

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