Martínez-Fernández, María Luisa

Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome. [electronic resource] - American journal of medical genetics. Part A Feb 2014 - 338-45 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review

1552-4833

10.1002/ajmg.a.36224 doi


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