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