A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures.

Smyk, Marta

A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures. [electronic resource] - American journal of medical genetics. Part A Aug 2015 - 1842-50 p. digital

Publication Type: Journal Article

1552-4833

10.1002/ajmg.a.37057 doi


Adolescent
Adult
Bone Diseases, Metabolic--genetics
Comparative Genomic Hybridization
Female
Fractures, Bone--genetics
Humans
Infant, Newborn
MAP Kinase Kinase 6--genetics
Pierre Robin Syndrome
Pregnancy
SOX9 Transcription Factor--genetics
Sequence Deletion
Young Adult