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Journal of Medical Genetics, ISSN 0022-2593, 08/2012, Volume 49, Issue 8, pp. 502 - 512
Journal Article
Human Mutation, ISSN 1059-7794, 06/2011, Volume 32, Issue 6, pp. 610 - 619
Journal Article
BMC Genomics, ISSN 1471-2164, 05/2016, Volume 17, Issue 1, pp. 318 - 318
Background: Bardet-Biedl Syndrome (BBS) and Alstrom Syndrome are two pleiotropic ciliopathies with significant phenotypic overlap between them across many... 
ELASTASE-1 | PATHWAY | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | DISEASE | GENETICS & HEREDITY | BASAL BODY DYSFUNCTION | SYNDROME PROTEINS | DEGRADATION | CILIARY DYSFUNCTION | DEGENERATION | FAMILY | Index Medicus
Journal Article
Pediatrics, ISSN 0031-4005, 2014, Volume 133, Issue 3, pp. e780 - e783
Alstrom syndrome (Online Mendelian Inheritance in Man ALMS #203800) is a rare hereditary disorder caused by mutations in the gene ALMS1. This rare disorder's... 
Diabetes mellitus | Bronchiectasis | Acanthosis nigricans | PEDIATRICS | diabetes mellitus | bronchiectasis | Bronchiectasis - complications | Alstrom Syndrome - complications | Alstrom Syndrome - diagnosis | Humans | Adolescent | Female | Bronchiectasis - diagnosis | Pediatrics | Genetics | Genetic disorders | Mutation | Diabetes | Genes | Index Medicus | Abridged Index Medicus
Journal Article
The Indian Journal of Pediatrics, ISSN 0019-5456, 10/2018, Volume 85, Issue 10, pp. 924 - 926
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s12098-018-2740-y 
Medicine & Public Health | Pediatrics | Gynecology | PEDIATRICS | CENTROSOME | Child, Preschool | Female | Alstrom Syndrome - complications | Immunologic Deficiency Syndromes - complications | Alstrom Syndrome - diagnosis | Humans | Immunodeficiency | Medical genetics | College teachers
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 01/2019, Volume 40, Issue 1, pp. 7 - 11
Background: We describe the ophthalmologic, clinical, and genetic findings in a patient of Yemenite-Jewish origin diagnosed with Alstrom syndrome due to a... 
splicing mutation | Alstrom syndrome | impaired vision | inherited retinal degeneration | ALMS1 | VARIANTS | GENETICS & HEREDITY | OPHTHALMOLOGY | CONE
Journal Article
British Journal of Diabetes and Vascular Disease, ISSN 1474-6514, 03/2013, Volume 13, Issue 2, pp. 74 - 77
Journal Article
Journal Article