Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

Huang, Lijia

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. [electronic resource] - Human mutation Feb 2016 - 148-54 p. digital

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

1098-1004

10.1002/humu.22924 doi


Abnormalities, Multiple--diagnosis
Amino Acid Motifs
Databases, Genetic
Gene Expression
Haploinsufficiency
Hearing Loss--diagnosis
Humans
Intellectual Disability--diagnosis
Mandibulofacial Dysostosis--diagnosis
Microcephaly--diagnosis
Models, Molecular
Molecular Sequence Data
Mutation
Penetrance
Peptide Elongation Factors--genetics
Phenotype
Protein Structure, Secondary
Protein Structure, Tertiary
RNA Splicing
Ribonucleoprotein, U5 Small Nuclear--genetics
Spliceosomes--genetics