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City Porto / Padua / Leeds / Birmingham / Greifswald / Lisbon / Mount Desert / Kyoto / Bar Harbor / / Company Medications / Portugal European Journal / Alstro Management / BP / The Jackson Laboratory / Ge / Russell / Italy European Journal / UK Clinical Molecular Genetics Laboratory / Italy West Midlands Regional Genetics Laboratory / Ju 1 The Jackson Laboratory / Cardiac / / Country Portugal / United Kingdom / Germany / United States / Japan / / Currency CHF / USD / / / Event FDA Phase / / Facility Bar Harbor / University School / Birmingham Women’s Hospital / St James’s University Hospital / / IndustryTerm intensive medical management / otitis media / heterozygous carrier / alstrom@syndromeuk.freeserve.co.uk Web / love@rei-rei.sakura.ne.jp Web / carrier testing / org Web / e-pub / carrier status / france.alstrom@free.fr Web / nuclear magnetic resonance imaging / food obsession / / MedicalCondition photophobia / microcephaly / hyperandrogenism infections JHistory / syndactyly / lumbar scoliosis / abdominal obesity / years myopia / J Pediatr Ophthalmol Strabismus / autosomal recessive / single gene disorder / endocrinological dysfunction / JRecurrent pulmonary JNormal digits JRecurrent / DIDMOAD / Pulmonary function Chronic / cirrhosis / mitochondrial disorders / hepatitis B / pulmonary fibrosis / virus infections / juvenile blindness / eventual juvenile blindness / Alstrom syndrome / Optic atrophy Coloboma / Cohen Syndrome / disorder / hypogonadism / portal hypertension surgery / unknown disease / delayed puberty / primary hypogonadism / pulmonary function testing / urinary tract infections / thick / flat feet / otitis media / metabolic disorders / pigmentary retinopathy / severe disease / renal dysfunction / nerve deafness / scoliosis / truncal obesity / secondary hypertension / abdominal pain / end-stage renal failure / Hepatic inflammation / pneumonia / respiratory illness / mental retardation / specific syndrome / cardiomyopathy / neurogenous deafness / gingivitis / cystitis / low sperm count / systemic disturbances Hypertension / hypothyroidism / hyperglycemia / Diabetes / wide flat feet / esophageal reflux / rod retinal degeneration / hyperandrogenism / portal hypertension / kyphosis / Alstrom’s syndrome / dilated cardiomyopathy / photophobia Night blindness / Syndromic obesity / early hearing loss / developmental milestones infections JDelayed / respiratory infection / expressive language delay / low vision / renal failure / early and consistent Obesity / detrusor-urethral dyssynergia / Fibrosis / disorders / glucose intolerance / absence seizures / DF / No No Normal/delayed Normal/delayed Hepatic Urologic Orthopedic Head Genetic Diabetes insipidus / hyperinsulinemia / flu / significant fibrosis / liver failure / sensorineural hearing impairment / aniridia / bilateral sensorineural hearing loss / congenital amaurosis / achromatopsia / alopecia / II Syndrome / hyperthyroidism / Cardiac Yes No No Respiratory Pulmonary / Hepatic dysfunction / sensorineural hearing loss / increased fatty tissue / additional disease / diabetes hypothyroidism / deafness / varices / obesity / rare disorder / renal disease / childhood obesity / rare syndrome / gastrointestinal reflux disease / sinusitis / hearing loss / multifaceted disorder / chronic bronchitis / ALMS1 cause obesity / blindness / gynecomastia / restrictive lung disease / ataxia / familial syndrome / Congenital heart defects / endocrine disorders / congestive heart failure / insulin resistance / hypertension / disease / JFlat wide feet JHypothyroidism JHypertension JRecurrent UTI/urinary dysfunction JGrowth hormone JAlopecia deficiency / light sensitivity / hypertriglyceridemia / acute respiratory distress syndrome / chronic obstructive pulmonary disease / eventual renal failure / No No Yes Mental retardation / Urethral strictures / legal blindness / profound deafness / chronic mild kidney dysfunction / JFlat wide feet JHypothyroidism JHypertension JRecurrent UTI JGrowth milestones hormone deficiency / hyperlipidemia / basal body dysfunction / severe hypertriglyceridemia / pain / renal insufficiency / Acanthosis nigricans / flat feet / GERD / male hypogonadism / diabetes mellitus / growth hormone deficiency / ovarian cysts / Subclinical hypothyroidism / Hyperostosis frontalis interna / polydactyly / Recurrent urinary tract infections / highly variable disease / Fatty liver / inflammation / esophageal varices / Biedl Syndrome / Cataract / Syndrome / / MedicalTreatment surgery / continuous positive airway pressure / low-fat diet / catheterization / dialysis / Renal transplantation / hormone therapy / counseling / Heart catheterization / cochlear implant / hormone replacement / vaccinations / / Movie Male and female / / Organization University School of Medicine / PRACTICAL GENETICS In association / Department of Medical and Surgical Sciences / Birmingham Women’s Hospital / American Diabetes Association / St James’s University Hospital / / Person Jan D Marshall / Ann Ital Med / Clin Endocrinol / Genetic Diabetes / Arch Intern / Uric / de Gaulle / / / Position Prime Minister / Bronson RT / Major / Marshall / Genetics Coordinator Alstrom Syndrome Studies / No No Normal/delayed Normal/delayed Hepatic Urologic Orthopedic Head / marshall / / Product estradiol / testosterone / spironolactone / Uric acid / / ProvinceOrState Maine / / PublishedMedium European Journal of Human Genetics / / Technology X-ray / magnetic resonance imaging / genotype / dialysis / ultrasound / transplantation / BBS / http / / URL www.jax.org/alstrom / www.alstrom.org.uk / http / SocialTag 
European Journal of Human Genetics[removed], 1193–1202 & 2007 Nature Publishing Group All rights reserved[removed] $30.00 www.nature.com/ejhg