Carvalho, Claudia M B

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. [electronic resource] - American journal of human genetics Nov 2014 - 565-78 p. digital

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

1537-6605

10.1016/j.ajhg.2014.10.006 doi


Abnormalities, Multiple--genetics
Acyl-CoA Dehydrogenase, Long-Chain--genetics
Adaptor Proteins, Signal Transducing--genetics
Animals
Apoptosis Regulatory Proteins
Asialoglycoprotein Receptor--genetics
Base Sequence
Cell Line
Chromosome Breakpoints
Chromosome Deletion
Chromosomes, Human, Pair 17--genetics
Dishevelled Proteins
Flow Cytometry
Gene Dosage--genetics
Humans
Immunohistochemistry
Intellectual Disability--genetics
Microcephaly--genetics
Microtubule-Associated Proteins--genetics
Molecular Sequence Data
Phosphoproteins--genetics
Retrospective Studies
Sequence Analysis, DNA
Smith-Magenis Syndrome
Syndrome
Zebrafish