TY  - GEN
AU  - Kato,Mitsuhiro
AU  - Das,Soma
AU  - Petras,Kristin
AU  - Kitamura,Kunio
AU  - Morohashi,Ken-Ichirou
AU  - Abuelo,Diane N
AU  - Barr,Mason
AU  - Bonneau,Dominique
AU  - Brady,Angela F
AU  - Carpenter,Nancy J
AU  - Cipero,Karen L
AU  - Frisone,Francesco
AU  - Fukuda,Takayuki
AU  - Guerrini,Renzo
AU  - Iida,Eri
AU  - Itoh,Masayuki
AU  - Lewanda,Amy Feldman
AU  - Nanba,Yukiko
AU  - Oka,Akira
AU  - Proud,Virginia K
AU  - Saugier-Veber,Pascale
AU  - Schelley,Susan L
AU  - Selicorni,Angelo
AU  - Shaner,Rachel
AU  - Silengo,Margherita
AU  - Stewart,Fiona
AU  - Sugiyama,Noriyuki
AU  - Toyama,Jun
AU  - Toutain,Annick
AU  - Vargas,Ana Lía
AU  - Yanazawa,Masako
AU  - Zackai,Elaine H
AU  - Dobyns,William B
TI  - Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation
SN  - 1098-1004
PY  - 2004///0308
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Agenesis of Corpus Callosum
KW  - Cells, Cultured
KW  - Corpus Callosum
KW  - pathology
KW  - DNA Mutational Analysis
KW  - methods
KW  - Female
KW  - Gene Expression Regulation
KW  - Genetic Linkage
KW  - Genitalia, Female
KW  - abnormalities
KW  - Genitalia, Male
KW  - Genotype
KW  - Homeodomain Proteins
KW  - biosynthesis
KW  - Humans
KW  - Infant, Newborn
KW  - Lymphocytes
KW  - chemistry
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Mutation
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phenotype
KW  - Sex Chromosome Disorders
KW  - Transcription Factors
N1  - Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1002/humu.10310
ER  -