Article

New Genetic Variants of RUNX2 in Mexican Families Causes Cleidocranial Dysplasia

2024-01-31

Abstract excerpt

Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterized by persistent open skull sutures whit 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,...

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Literature Corpus work: 1163f562-e278-5fd0-b516-6d3b366bf5e3
DOI: 10.20944/preprints202401.2179.v1

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