Rare FMR1 gene mutations causing fragile X syndrome: A review.

Sitzmann, Adam F

Rare FMR1 gene mutations causing fragile X syndrome: A review. [electronic resource] - American journal of medical genetics. Part A 01 2018 - 11-18 p. digital

Publication Type: Journal Article; Review; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1552-4833

10.1002/ajmg.a.38504 doi


Alleles
Child
DNA Mutational Analysis
Exons
Facies
Fragile X Mental Retardation Protein
Fragile X Syndrome--diagnosis
Genetic Association Studies
Genotype
High-Throughput Nucleotide Sequencing
Humans
Male
Mutation
Mutation, Missense
Phenotype