Atypical presentation and a novel mutation in ALMS1: Implications for clinical and molecular diagnostic strategies for Alström syndrome

Clinical Genetics

Volumn 83, Issue 1, 2013, Pages 96-98

  Tasdemir S ^a   Guzel Ozanturk A ^b   Marshall, Jd ^c   Collin, Gb ^c   Özgül, Rk ^b   Narin, N ^d   Dundar M ^d   Naggert, Jk ^c  

^a ATATÜRK UNIVERSITY   (Turkey)

^b HACETTEPE UNIVERSITY   (Turkey)

^c JACKSON LABORATORY   (United States)

^d ERCIYES UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALMS1 GENE; ALSTROM SYNDROME; ASCITES; BLINDNESS; BODY MASS; CASE REPORT; CONGESTIVE CARDIOMYOPATHY; CONGESTIVE HEART FAILURE; CONSANGUINEOUS MARRIAGE; DNA POLYMORPHISM; ECHOCARDIOGRAPHY; ECHOGRAPHY; EXON; FEBRILE CONVULSION; GENE; GENE MUTATION; HEARING DISORDER; HEART ARREST; HEART ATRIUM ENLARGEMENT; HEART ATRIUM FIBRILLATION; HEPATOMEGALY; HOMOZYGOSITY; HUMAN; HYPERTRANSAMINASEMIA; INSULIN RESISTANCE; LETTER; MALE; MITRAL VALVE PROLAPSE; MITRAL VALVE REGURGITATION; MOLECULAR DIAGNOSIS; OPTIC DISK ANOMALY; ORAL GLUCOSE TOLERANCE TEST; PERICARDIAL EFFUSION; PRIORITY JOURNAL; RETINA DISEASE; TRICUSPID VALVE REGURGITATION;

ADOLESCENT; ALSTROM SYNDROME; ECHOCARDIOGRAPHY; HUMANS; MALE; MUTATION; PATHOLOGY, MOLECULAR; PROTEINS;

EID: 84871220913     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2012.01883.x     Document Type: Letter

References (3)

1. Marshall JD, Beck S, Maffei P et al. Alström syndrome. Eur J Hum Genet 2007: 15: 1193-1202.
2. Marshall JD, Maffei P, Collin GB et al. Alstrom syndrome: genetics and clinical overview. Curr Genomics 2011: 12 (3): 225-235.
3. Waters AM, Beales PL. Bardet-Biedl syndrome. In: Pagon RA, Bird TD, Dolan CR, Stephens K, eds. Gene reviews (Internet). Seattle, WA: University of Washington (updated 29 September 2011).