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12/2011
McKusick-Kaufman syndrome (MKS, OMIM #236700) is a rare syndrome inherited in an autosomal recessive pattern with a phenotypic triad comprising... 
McKusick-Kaufman syndrome | polydactyly | Hydrometrocolpos
Web Resource
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2004, Volume 101, Issue 47, pp. 16588 - 16593
Journal Article
BBA - General Subjects, ISSN 0304-4165, 03/2013, Volume 1830, Issue 3, pp. 2728 - 2738
Upstream open reading frames (uORFs) are commonly found in the 5′-untranslated region (UTR) of many genes and function in translational control. However,... 
Mitochondrion | Polyadenylation signal | Upstream open reading frame | Translational regulation | mRNA processing | McKusick–Kaufman syndrome | McKusick-Kaufman syndrome | MKKS | ORF | SEQUENCES | BIOCHEMISTRY & MOLECULAR BIOLOGY | RECEPTOR | MESSENGER-RNAS | BIOPHYSICS | GENE | BARDET-BIEDL-SYNDROME | MUTATIONS | 5'UTR | EXPRESSION | Proteins | Messenger RNA
Journal Article
PLoS Genetics, ISSN 1553-7390, 07/2017, Volume 13, Issue 7, pp. e1006936 - e1006936
Mutations in BBS6 cause two clinically distinct syndromes, Bardet-Biedl syndrome (BBS), a syndrome caused by defects in cilia transport and function, as well... 
ZEBRAFISH EMBRYOS | KUPFFERS VESICLE | MCKUSICK-KAUFMAN-SYNDROME | SWI/SNF COMPLEX | PORE COMPLEX | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | SYNDROME GENES | MUTATIONS | BETA-CATENIN | MOUSE EMBRYO | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Uterine Diseases - metabolism | Bardet-Biedl Syndrome - metabolism | Humans | Uterine Diseases - pathology | Chromatin Assembly and Disassembly - genetics | Cytoplasm - metabolism | Polydactyly - metabolism | Group II Chaperonins - genetics | Heart Defects, Congenital - genetics | Hydrocolpos - genetics | Bardet-Biedl Syndrome - pathology | Bardet-Biedl Syndrome - genetics | Hydrocolpos - pathology | Active Transport, Cell Nucleus - genetics | Abnormalities, Multiple - genetics | Disease Models, Animal | Cilia - pathology | Polydactyly - genetics | Heart Defects, Congenital - pathology | Hydrocolpos - metabolism | Transcription Factors - biosynthesis | Transcription Factors - genetics | Cilia - metabolism | Protein Transport - genetics | Zebrafish - genetics | Animals | Animals, Genetically Modified - genetics | Uterine Diseases - genetics | Heart Defects, Congenital - metabolism | Mice | Mutation | Chromatin - genetics | Polydactyly - pathology | Chromatin | Bardet-Biedl syndrome | Genetic aspects | Gene mutations | Health aspects | Heart | Pediatrics | Profiling | Transcription | Funding | Retinitis pigmentosa | Disorders | Transgenic | Cardiovascular disease | Biology | Remodeling | Nuclei | Defects | Proteins | Localization | Heart diseases | Cilia | Genetic disorders | Congenital diseases | Zebrafish | Roles | Gene expression | Patients | Coronary artery disease | Chromatin remodeling | Medicine | Alleles | McKusick-Kaufman syndrome | Genetic engineering | Retinitis | Transport | Position (location) | Cytoplasm | Index Medicus
Journal Article
Journal Article