Bhat, Shambhu S

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