Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.

Bayram, Yavuz

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. [electronic resource] - American journal of medical genetics. Part A Sep 2014 - 2328-34 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural

1552-4833

10.1002/ajmg.a.36678 doi


Adolescent
Adult
Alopecia--genetics
Anodontia--genetics
Base Sequence
Child
Chromosome Segregation--genetics
DNA Mutational Analysis
Exome--genetics
Facies
Family
Female
Growth Disorders--genetics
Humans
Male
Microfilament Proteins
Molecular Sequence Data
Mutation--genetics
Neoplasm Proteins--chemistry
Optic Atrophies, Hereditary--genetics
Pedigree
Protein Structure, Tertiary
Receptors, Cell Surface--chemistry