Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.

Jones, Gabriela E

Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome. [electronic resource] - American journal of medical genetics. Part A Mar 2016 - 754-9 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.37511 doi


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