ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism

被引:20
作者
Van Esch, H [1 ]
Poirier, K [1 ]
de Zegher, F [1 ]
Holvoet, M [1 ]
Bienvenu, T [1 ]
Chelly, J [1 ]
Devriendt, K [1 ]
Fryns, JP [1 ]
机构
[1] Univ Hosp Leuven, B-3000 Louvain, Belgium
关键词
D O I
10.1111/j.1399-0004.2004.00256.x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:503 / 505
页数:3
相关论文
共 18 条
[1]   Current approaches for deciphering the molecular basis of combined anterior pituitary hormone deficiency in humans [J].
Amselem, S .
MOLECULAR AND CELLULAR ENDOCRINOLOGY, 2002, 197 (1-2) :47-56
[2]   ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation [J].
Bienvenu, T ;
Poirier, K ;
Friocourt, G ;
Bahi, N ;
Beaumont, D ;
Fauchereau, F ;
Ben Jeema, L ;
Zemni, R ;
Vinet, MC ;
Francis, F ;
Couvert, P ;
Gomot, M ;
Moraine, C ;
van Bokhoven, H ;
Kalscheuer, V ;
Frints, S ;
Gecz, J ;
Ohzaki, K ;
Chaabouni, H ;
Fryns, JP ;
Desportes, V ;
Beldjord, C ;
Chelly, J .
HUMAN MOLECULAR GENETICS, 2002, 11 (08) :981-991
[3]   X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG):: Clinical, magnetic resonance imaging, and neuropathological findings [J].
Bonneau, D ;
Toutain, A ;
Laquerrière, A ;
Marret, S ;
Saugier-Veber, P ;
Barthez, MA ;
Radi, S ;
Biran-Mucignat, V ;
Rodriguez, D ;
Gélot, A .
ANNALS OF NEUROLOGY, 2002, 51 (03) :340-349
[4]   HYPOTHALAMIC-PITUITARY FUNCTIONS IN PATIENTS WITH TRANS-SPHENOIDAL ENCEPHALOCELE AND MIDFACIAL ANOMALIES [J].
ELLYIN, F ;
KHATIR, AH ;
SINGH, SP .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1980, 51 (04) :854-856
[5]  
GRUBBEN C, 1990, Genetic Counseling, V1, P103
[6]   Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans [J].
Kitamura, K ;
Yanazawa, M ;
Sugiyama, N ;
Miura, H ;
Iizuka-Kogo, A ;
Kusaka, M ;
Omichi, K ;
Suzuki, R ;
Kato-Fukui, Y ;
Kamiirisa, K ;
Matsuo, M ;
Kamijo, S ;
Kasahara, M ;
Yoshioka, H ;
Ogata, T ;
Fukuda, T ;
Kondo, I ;
Kato, M ;
Dobyns, WB ;
Yokoyama, M ;
Morohashi, K .
NATURE GENETICS, 2002, 32 (03) :359-369
[7]   SYNDROME OF BASAL ENCEPHALOCELE AND HYPOTHALAMIC-PITUITARY DYSFUNCTION [J].
LIEBLICH, JM ;
ROSEN, SW ;
GUYDA, H ;
REARDAN, J ;
SCHAAF, M .
ANNALS OF INTERNAL MEDICINE, 1978, 89 (06) :910-916
[8]   BASAL ENCEPHALOCELES WITH MORNING GLORY SYNDROME, AND PROGRESSIVE HORMONAL AND VISUAL DISTURBANCES - CASE-REPORT AND REVIEW OF THE LITERATURE [J].
MORIOKA, M ;
MARUBAYASHI, T ;
MASUMITSU, T ;
MIURA, M ;
USHIO, Y .
BRAIN & DEVELOPMENT, 1995, 17 (03) :196-201
[9]   X-LINKED MENTAL-RETARDATION WITH DYSTONIC MOVEMENTS OF THE HANDS [J].
PARTINGTON, MW ;
MULLEY, JC ;
SUTHERLAND, GR ;
HOCKEY, A ;
THODE, A ;
TURNER, G .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 30 (1-2) :251-262
[10]   Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons [J].
Poirier, K ;
Van Esch, H ;
Friocourt, G ;
Saillour, Y ;
Bahi, N ;
Backer, S ;
Souil, E ;
Castelnau-Ptakhine, L ;
Beldjord, C ;
Francis, F ;
Bienvenu, T ;
Chelly, J .
MOLECULAR BRAIN RESEARCH, 2004, 122 (01) :35-46