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Molecular Syndromology, ISSN 1661-8769, 08/2010, Volume 1, Issue 2, pp. 67 - 74
Van der Woude syndrome (VWS), caused by dominant IRF6 mutation, is the most common cleft syndrome. In 15% of the patients, lip pits are absent and the... 
Original Article | Genetic | Cleft palate | PPS | VWS | IRF6 | Non-syndromic cleft lip | Original
Journal Article
Journal Article
American Journal of Medical Genetics. Part A, ISSN 1552-4825, 03/2015, Volume 167A, Issue 3, p. 461
Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems. However,... 
Genetics(clinical) | DEFECT | KNIEST-DYSPLASIA | genotype-phenotype | Journal Article | CARTILAGE | COL2A1 | II COLLAGEN | GENE | Research Support, Non-U.S. Gov't | SEDC | SKELETAL DYSPLASIA | RETINAL-DETACHMENT | MYELOPATHY | Genetics | EXPRESSION | spondyloepiphyseal dysplasia
Journal Article
American Journal of Medical Genetics. Part A, ISSN 1552-4825, 03/2015, Volume 167A, Issue 3, pp. 461 - 475
Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems. However,... 
DEFECT | KNIEST-DYSPLASIA | genotype-phenotype | CARTILAGE | COL2A1 | II COLLAGEN | GENE | review | SEDC | SKELETAL DYSPLASIA | RETINAL-DETACHMENT | MYELOPATHY | EXPRESSION | spondyloepiphyseal dysplasia
Journal Article
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 01/2008, Volume 51, Issue 1, pp. 87 - 91
We here report a boy presenting with developmental delay, growth retardation, facial dysmorphisms, vermis hypoplasia, micropolygyria and corpus callosum... 
Cytogenetics | Agenesis | Analysis
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2004, Volume 124A, Issue 1, pp. 60 - 66
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 06/2017, Volume 54, Issue 6, pp. 371 - 380
Journal Article
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