{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13(3)"],"submitter":["Toral Lopez J"],"pubmed_abstract":["Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterized by persistent open skull sutures with bulging calvaria, hypoplasia, or aplasia of clavicles permitting abnormal opposition of the shoulders; wide public symphysis; short middle phalanx of the fifth fingers; and vertebral, craniofacial, and dental anomalies. It is a rare disease, with a prevalence of 1-9/1,000,000, high penetrance, and variable expression. The gene responsible for CCD is the Runt-related transcription factor 2 (<i>RUNX2</i>) gene. We characterize the clinical, genetic, and bioinformatic results of four CCD cases: two cases within Mexican families with six affected members, nine asymptomatic individuals, and two sporadic cases with CCD, with one hundred healthy controls. Genomic DNA analy"],"journal":["Biology"],"pagination":["173"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10968410"],"repository":["biostudies-literature"],"pubmed_title":["New Genetic Variants of <i>RUNX2</i> in Mexican Families Cause Cleidocranial Dysplasia."],"pmcid":["PMC10968410"],"pubmed_authors":["Cuevas Covarrubias S","Gomez Martinez S","Rivera Vega MDR","Hernandez-Zamora E","Toral Lopez J","Gonzalez Huerta LM","Ibarra Castrejon BA"],"additional_accession":[]},"is_claimable":false,"name":"New Genetic Variants of <i>RUNX2</i> in Mexican Families Cause Cleidocranial Dysplasia.","description":"Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterized by persistent open skull sutures with bulging calvaria, hypoplasia, or aplasia of clavicles permitting abnormal opposition of the shoulders; wide public symphysis; short middle phalanx of the fifth fingers; and vertebral, craniofacial, and dental anomalies. It is a rare disease, with a prevalence of 1-9/1,000,000, high penetrance, and variable expression. The gene responsible for CCD is the Runt-related transcription factor 2 (<i>RUNX2</i>) gene. We characterize the clinical, genetic, and bioinformatic results of four CCD cases: two cases within Mexican families with six affected members, nine asymptomatic individuals, and two sporadic cases with CCD, with one hundred healthy controls. Genomic DNA analy","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Mar","modification":"2025-04-21T21:32:28.011Z","creation":"2025-04-05T18:23:01.356Z"},"accession":"S-EPMC10968410","cross_references":{"pubmed":["38534443"],"doi":["10.3390/biology13030173"]}}