MAP1B related syndrome: Case presentation and review of literature.

Authors

Diana M Julca
Jullianne Diaz
Seth Berger, George Washington University
Eyby Leon

Document Type

Journal Article

Publication Date

9-1-2019

Journal

American Journal of Medical Genetics. Part A

Volume

179

Issue

9

Inclusive Pages

1703-1708

DOI

10.1002/ajmg.a.61280

Keywords

Axons; Brain; Codon, Nonsense; Developmental Disabilities; Exome; Female; Fragile X Mental Retardation Protein; Gene Expression Regulation, Developmental; Genetic Predisposition to Disease; Humans; Infant; Infant, Newborn; Intellectual Disability; Microtubule-Associated Proteins; Pregnancy; Prenatal Exposure Delayed Effects; Whole Exome Sequencing

Comments

Epub 2019 Jul 17

APA Citation

Julca, D., Diaz, J., Berger, S., & Leon, E. (2019). MAP1B related syndrome: Case presentation and review of literature.. American Journal of Medical Genetics. Part A, 179 (9). http://dx.doi.org/10.1002/ajmg.a.61280

Peer Reviewed

1