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Journal of Medical Genetics, ISSN 0022-2593, 06/2011, Volume 48, Issue 6, pp. 375 - 382
Journal Article
Journal Article
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft, 08/2011, Volume 108, Issue 8, p. 759
Journal Article
JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN, ISSN 1022-386X, 10/2015, Volume 25, Issue 10, pp. S124 - S126
Fraser's Syndrome (FS) is a rare autosomal recessive disorder with a spectrum of malformations. The most consistent features are Cryptophthalmos (CO),... 
Syndactyly | Fraser syndrome | MEDICINE, GENERAL & INTERNAL | DIAGNOSTIC-CRITERIA | Cryptophthalmos | Abnormalities, Multiple - pathology | Pregnancy | Eye Abnormalities - pathology | Fraser Syndrome - diagnosis | Humans | Eyelids - abnormalities | Female | Infant | Syndactyly - pathology | Abnormalities, Multiple - genetics
Journal Article
Journal Article
Matrix Biology, ISSN 0945-053X, 01/2017, Volume 57-58, pp. 124 - 139
For most disorders caused by mutations in genes encoding basement membrane (BM) proteins, there are at present only limited treatment options available.... 
Rare diseases | Therapy | Skin | Muscle | Kidney | Basement membrane | CONGENITAL MUSCULAR-DYSTROPHY | BIOCHEMISTRY & MOLECULAR BIOLOGY | BONE-MARROW | ALPHA-3 CHAIN GENE | CELL BIOLOGY | PLURIPOTENT STEM-CELLS | FRASER-SYNDROME | MESENCHYMAL STROMAL CELLS | CLINICAL-TRIALS | MOUSE MODEL | VII COLLAGEN | DYSTROPHIC EPIDERMOLYSIS-BULLOSA | Brain Diseases - metabolism | Cell- and Tissue-Based Therapy - methods | Fibroblasts - transplantation | Heart Diseases - metabolism | Humans | Extracellular Matrix - metabolism | Skin Diseases - pathology | Basement Membrane - pathology | Stem Cell Transplantation | Mesenchymal Stromal Cells - cytology | Brain Diseases - therapy | Keratinocytes - transplantation | Induced Pluripotent Stem Cells - cytology | Eye Diseases - pathology | Fibroblasts - metabolism | Induced Pluripotent Stem Cells - metabolism | Kidney Diseases - metabolism | Skin Diseases - therapy | Skin Diseases - metabolism | Kidney Diseases - pathology | Muscular Diseases - metabolism | Induced Pluripotent Stem Cells - transplantation | Mesenchymal Stromal Cells - metabolism | Eye Diseases - metabolism | Keratinocytes - cytology | Muscular Diseases - pathology | Basement Membrane - metabolism | Brain Diseases - pathology | Heart Diseases - therapy | Keratinocytes - metabolism | Kidney Diseases - therapy | Fibroblasts - cytology | Extracellular Matrix - pathology | Muscular Diseases - therapy | Heart Diseases - pathology | Eye Diseases - therapy | Proteins | Bone marrow | Transplantation | Hematopoietic stem cells
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2014, Volume 94, Issue 2, pp. 288 - 294
Journal Article