Alström Hallgren syndrome;Síndrome de Alström Hallgren

Archivos de la Sociedad Espanola de Oftalmologia

Volumn 82, Issue 10, 2007, Pages 649-652

  Puertas Bordallo, Diego ^a   De Domingo Baron B ^a,b   Lozano Vazquez M ^a,b   Escudero Diaz C ^a,c   Ruiz Falco Rojas M L ^a,d   Fernandez Fernandez J ^a,b  

^a HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^b HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^c Servicio de Alergología

^d Sección de Neurología

Author keywords

ALSM1; Cardiomyopathy; Diabetes mellitus; Obesity; Photoreceptor dystrophy

Indexed keywords

ARTICLE; BLINDNESS; CASE REPORT; HEARING IMPAIRMENT; HEART DISEASE; HUMAN; INSULIN RESISTANCE; MALE; OBESITY; PRESCHOOL CHILD; SYNDROME;

BLINDNESS; CHILD, PRESCHOOL; DEAFNESS; HEART DISEASES; HUMANS; INSULIN RESISTANCE; MALE; OBESITY; SYNDROME;

EID: 38849187135     PISSN: 03656691     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Michaud JL, Heon E, Guilbert F, Weill J, Puech B, Benson L, et al. Natural history of Alstrom syndrome in early childhood: onset with dilated cardiomyopathy. J Pediatr 1996; 128: 225-229.
2. Collin GB, Marshall JD, Boerkoel NF, Levin AV, Weksberg R, Greenberg J, et al. Alstrom syndrome: further evidence for linkage to human chromosome 2p13. Hum Genet 1999; 105: 474-479.
3. Collin GB, Cyr E, Bronson R, Marshall JD, Gifford EJ, Hicks W, et al. Alms1-disrupted mice recapitulate human Alstrom syndrome. Hum Mol Genet 2005; 14: 2323-2333.
4. Deeble VJ, Roberts E, Jackson A, Lench N, Karbani G, Woods CG. The continuing failure to recognise Alstrom syndrome and further evidence of genetic homogeneity. J Med Genet 2000; 37: 219.
5. Collin GB, Marshall JD, Ikeda A, So WV, Russell-Eggitt I, Maffei P, et al. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. Nat Genet 2002; 31: 74-78.