Abstract Discovering the genetic basis of a Mendelian phenotype establishes a causal link between genotype and phenotype, making possible carrier and population screening and direct diagnosis. Such discoveries also contribute to our k...
Stars: 111 Updated: March 21st,2018
Franceschetti-Kelin syndrome) is a craniofacial malformation disorder characterized by downward slanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular ...(2012). “Gross deletions in TCOF1 are a cause ...
Stars: 57 Updated: March 21st,2018