Clinical delineation of the PACS1-related syndrome--Report on 19 patients.

Schuurs-Hoeijmakers, Janneke H M

Clinical delineation of the PACS1-related syndrome--Report on 19 patients. [electronic resource] - American journal of medical genetics. Part A Mar 2016 - 670-5 p. digital

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

1552-4833

10.1002/ajmg.a.37476 doi


Abnormalities, Multiple--diagnosis
Adolescent
Anticonvulsants--therapeutic use
Child
Child, Preschool
Facies
Failure to Thrive--diagnosis
Female
Gene Expression
Humans
Intellectual Disability--diagnosis
Male
Muscle Hypotonia--diagnosis
Point Mutation
Seizures--diagnosis
Severity of Illness Index
Syndrome
Vesicular Transport Proteins--genetics
Young Adult