A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia. [electronic resource]
- American journal of medical genetics. Part A Sep 2005
- 70-2 p. digital
Publication Type: Case Reports; Letter; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
1552-4825
10.1002/ajmg.a.30892 doi
Abnormalities, Multiple--genetics Agenesis of Corpus Callosum Base Sequence Brain--abnormalities Chromosomes, Human, X--genetics DNA Mutational Analysis Genetic Diseases, X-Linked--genetics Genitalia, Male--abnormalities Homeodomain Proteins--genetics Humans Infant Magnetic Resonance Imaging Male Sequence Deletion Transcription Factors--genetics