PMID- 12874405
OWN - NLM
STAT- MEDLINE
DCOM- 20040427
LR  - 20190514
IS  - 1526-632X (Electronic)
IS  - 0028-3878 (Linking)
VI  - 61
IP  - 2
DP  - 2003 Jul 22
TI  - ARX mutations in X-linked lissencephaly with abnormal genitalia.
PG  - 232-5
AB  - X-linked lissencephaly with abnormal genitalia (XLAG) is a distinct form of 
      lissencephaly associated with absent corpus callosum. Recently, forms of 
      syndromic and nonspecific X-linked mental retardation have been found to be 
      associated with mutations in the Aristaless-related homeobox gene ARX. The 
      authors assessed ARX as a candidate gene for XLAG in a genetic analysis of 
      neuronal migration disorders and found two different point mutations in two XLAG 
      pedigrees affecting the homeodomain of the protein, confirming that ARX is a 
      causative gene for XLAG.
FAU - Uyanik, G
AU  - Uyanik G
AD  - Department of Neurology, University of Regensburg, Germany.
FAU - Aigner, L
AU  - Aigner L
FAU - Martin, P
AU  - Martin P
FAU - Gross, C
AU  - Gross C
FAU - Neumann, D
AU  - Neumann D
FAU - Marschner-Schafer, H
AU  - Marschner-Schafer H
FAU - Hehr, U
AU  - Hehr U
FAU - Winkler, J
AU  - Winkler J
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Neurology
JT  - Neurology
JID - 0401060
RN  - 0 (ARX protein, human)
RN  - 0 (Homeodomain Proteins)
RN  - 0 (Transcription Factors)
SB  - IM
CIN - Neurology. 2003 Jul 22;61(2):156-7. PMID: 12874390
MH  - Abnormalities, Multiple/*genetics
MH  - Amino Acid Substitution
MH  - Basal Ganglia/abnormalities
MH  - Cell Movement
MH  - Cerebral Cortex/*abnormalities
MH  - Cryptorchidism/genetics
MH  - DNA Mutational Analysis
MH  - Epilepsy/genetics
MH  - Fatal Outcome
MH  - Genitalia, Male/*abnormalities
MH  - Heart Defects, Congenital/genetics
MH  - Homeodomain Proteins/chemistry/genetics/*physiology
MH  - Humans
MH  - Hypospadias/genetics
MH  - Infant, Newborn
MH  - Male
MH  - Mental Retardation, X-Linked/*genetics
MH  - Microcephaly/genetics
MH  - Mutation, Missense
MH  - Pedigree
MH  - *Point Mutation
MH  - Protein Structure, Tertiary
MH  - Sequence Deletion
MH  - Structure-Activity Relationship
MH  - Transcription Factors/chemistry/deficiency/genetics/*physiology
EDAT- 2003/07/23 05:00
MHDA- 2004/04/28 05:00
CRDT- 2003/07/23 05:00
PHST- 2003/07/23 05:00 [pubmed]
PHST- 2004/04/28 05:00 [medline]
PHST- 2003/07/23 05:00 [entrez]
AID - 10.1212/01.wnl.0000079371.19562.ba [doi]
PST - ppublish
SO  - Neurology. 2003 Jul 22;61(2):232-5. doi: 10.1212/01.wnl.0000079371.19562.ba.