Martínez-Fernández, María Luisa

Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date. [electronic resource] - American journal of medical genetics. Part A Sep 2015 - 2034-41 p. digital

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

1552-4833

10.1002/ajmg.a.37117 doi


Abnormalities, Multiple--genetics
Adolescent
Chromosome Deletion
Chromosomes, Human, Pair 17--genetics
Female
Gene Deletion
Humans
Intellectual Disability--genetics
Male
Syndrome