Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome. [electronic resource]
Producer: 20161104Description: 754-9 p. digitalISSN:- 1552-4833
- Amino Acid Sequence
- Brain -- pathology
- Cell Adhesion Molecules -- chemistry
- Comparative Genomic Hybridization
- Facies
- Female
- Heart Defects, Congenital -- diagnosis
- Heterozygote
- Holoprosencephaly -- diagnosis
- Humans
- Limb Deformities, Congenital -- diagnosis
- Magnetic Resonance Imaging
- Models, Molecular
- Molecular Sequence Data
- Mutation, Missense
- Phenotype
- Protein Conformation
- Tumor Suppressor Proteins -- chemistry
- Young Adult
No physical items for this record
Publication Type: Case Reports; Journal Article
There are no comments on this title.
Log in to your account to post a comment.