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ulnar-mammary syndrome (209) 209
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Journal Article
Journal Article
ANNUAL REVIEW OF MEDICINE, ISSN 0066-4219, 2005, Volume 56, pp. 443 - 443
Until relatively recently, the small number of identifiable inherited human diseases associated with marked obesity were complex, pleiotropic developmental... 
CONGENITAL LEPTIN DEFICIENCY | ULNAR-MAMMARY SYNDROME | EARLY-ONSET OBESITY | ALSTROM-SYNDROME | NATURAL-HISTORY | leptin | BODY-WEIGHT | MEDICINE, GENERAL & INTERNAL | genetics | BARDET-BIEDL-SYNDROME | MISSENSE MUTATION | syndromes | FRAMESHIFT MUTATION | PRADER-WILLI-SYNDROME
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2019
Ulnar-mammary syndrome (UMS) is a rare syndromic limb malformation caused by heterozygous mutations in TBX3. The name highlights the two commonly involved body... 
Ulnar-mammary syndrome | Dorsalization | Little finger
Journal Article
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 12/2009, Volume 149, Issue 12, pp. 2809 - 2812
Journal Article
Cardiovascular research, ISSN 0008-6363, 2010, Volume 88, Issue 1, pp. 130 - 139
Holt-Oram syndrome (HOS) is a heart/hand syndrome clinically characterized by upper limb and cardiac malformations. Mutations in T-box transcription factor 5... 
Heart | Genetics | TBX5 | Transcription factor | Holt-Oram syndrome | LUNG | DEFECTS | CARDIAC & CARDIOVASCULAR SYSTEMS | GENOTYPE | ULNAR-MAMMARY SYNDROME | LIMB | HEART-DISEASE | GENE | DIFFERENTIATION | EXPRESSION | Abnormalities, Multiple - metabolism | T-Box Domain Proteins - chemistry | Immunoprecipitation | Homeodomain Proteins - metabolism | Humans | Molecular Sequence Data | Mutation, Missense | Recombinant Fusion Proteins - metabolism | Case-Control Studies | Heart Defects, Congenital - genetics | Transfection | DNA Mutational Analysis | Atrial Natriuretic Factor - genetics | Heart Septal Defects, Atrial - metabolism | Heart Septal Defects, Atrial - genetics | Electrophoretic Mobility Shift Assay | Fibroblast Growth Factor 10 - genetics | Binding Sites | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Lower Extremity Deformities, Congenital - metabolism | Amino Acid Sequence | Cell Line | Promoter Regions, Genetic | GATA4 Transcription Factor - metabolism | Models, Molecular | Rats | GATA4 Transcription Factor - genetics | Genotype | Upper Extremity Deformities, Congenital - metabolism | Upper Extremity Deformities, Congenital - genetics | T-Box Domain Proteins - genetics | Homeodomain Proteins - genetics | T-Box Domain Proteins - metabolism | Phenotype | Animals | Protein Binding | Protein Conformation | Heart Defects, Congenital - metabolism
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2003, Volume 73, Issue 1, pp. 74 - 85
Mutations in a T-box–containing transcription factor, cause cardiac and limb malformations in individuals with Holt-Oram syndrome (HOS). Mutations that result... 
PHOTOREALISTIC MOLECULAR GRAPHICS | LIMB | HEART-DEFECTS | DISEASE | GENETICS & HEREDITY | ULNAR-MAMMARY SYNDROME | RASTER3D | MUTATIONS | SPECTRUM | TRANSCRIPTION FACTOR | PROGRAM | Pedigree | Humans | Female | Genotype | Male | T-Box Domain Proteins - genetics | Abnormalities, Multiple - genetics | Syndrome | Congenital heart disease | Genetic aspects | Research
Journal Article