Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

Schuurs-Hoeijmakers, Janneke H M

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. [electronic resource] - American journal of human genetics Dec 2012 - 1122-7 p. digital

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

1537-6605

10.1016/j.ajhg.2012.10.013 doi


Amino Acid Sequence
Animals
Base Sequence
Facies
Humans
Intellectual Disability--diagnosis
Male
Mutation
Neural Crest--embryology
Syndrome
Vesicular Transport Proteins--genetics
Zebrafish--embryology