Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

Lines, Matthew A

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. [electronic resource] - American journal of human genetics Feb 2012 - 369-77 p. digital

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

1537-6605

10.1016/j.ajhg.2011.12.023 doi


Abnormalities, Multiple--genetics
Alleles
Amino Acid Sequence
Child
Child, Preschool
Cohort Studies
Exome
Female
GTP Phosphohydrolases--genetics
Haploinsufficiency--genetics
Humans
Infant
Male
Mandibulofacial Dysostosis--genetics
Microcephaly--genetics
Molecular Sequence Data
Mutation--genetics
Protein Structure, Tertiary--genetics
RNA Splicing--genetics
Ribonucleoprotein, U5 Small Nuclear--genetics
Spliceosomes--genetics