Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome. [electronic resource]
Producer: 20140911Description: 338-45 p. digitalISSN:- 1552-4833
- Bone Morphogenetic Protein 4 -- genetics
- Child
- Child, Preschool
- Chromosome Banding
- Chromosome Deletion
- Chromosomes, Human, Pair 14
- Comparative Genomic Hybridization
- Face -- abnormalities
- Facies
- Female
- Foot Deformities, Congenital -- diagnosis
- Gene Deletion
- Growth Disorders -- diagnosis
- Haploinsufficiency
- Humans
- Infant, Newborn
- Pedigree
- Phenotype
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
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