Trimouille, Aurélien

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference. [electronic resource] - European journal of human genetics : EJHG 01 2018 - 85-93 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1476-5438

10.1038/s41431-017-0037-7 doi


Abnormalities, Multiple--genetics
Adolescent
Child
Child, Preschool
Chromosome Duplication
Chromosomes, Human, Pair 19--genetics
Female
Humans
Infant
Intellectual Disability--genetics
Male
NFI Transcription Factors--genetics
Syndrome