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Journal Article
Neurobiology of Disease, ISSN 0969-9961, 2015, Volume 86, pp. 75 - 85
Journal Article
Journal Article
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 05/2013, Volume 22, Issue 9, pp. 1746 - 1754
Several known or putative glycosyltransferases are required for the synthesis of laminin-binding glycans on alpha-dystroglycan (DG), including POMT1, POMT2,... 
ALPHA-DYSTROGLYCAN | CONGENITAL MUSCULAR-DYSTROPHY | COMPLEX | ABNORMAL GLYCOSYLATION | LAMININ | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | WALKER-WARBURG-SYNDROME | GLYCOPROTEINS | REQUIRES | RECEPTOR | EXTRACELLULAR-MATRIX
Journal Article
Neurology, ISSN 0028-3878, 2015, Volume 84, Issue 21, pp. 2177 - 2182
OBJECTIVE: To identify the underlying genetic defect in 5 patients from a consanguineous family with a Walker-Warburg phenotype, together with intracranial... 
ALPHA-DYSTROGLYCAN | CELLS | DISEASE | MUSCULAR-DYSTROPHIES | MUSCLE | MUTATIONS | CLINICAL NEUROLOGY | Dystroglycans - deficiency | Frameshift Mutation | Humans | Arabs - genetics | Dystroglycans - genetics | Female | Infant | Consanguinity | Walker-Warburg Syndrome - genetics | Israel | Infant, Newborn | Walker-Warburg Syndrome - pathology
Journal Article
Nature Reviews Genetics, ISSN 1471-0056, 2004, Volume 5, Issue 7, pp. 545 - 551
There are more than 2,000 monogenic syndromes in man. Each syndrome has a specific combination of phenotypic features, and each differs from other syndromes by... 
MOLECULAR-BIOLOGY | WAARDENBURG-SYNDROME | DISEASE | GENETICS & HEREDITY | PALLISTER-HALL-SYNDROME | WALKER-WARBURG-SYNDROME | BARDET-BIEDL-SYNDROME | MUTATIONS | GENETIC-DISORDERS | OSTEOPETROSIS | FANCONI-ANEMIA | Multigene Family | Humans | Computational Biology | Family Health | Male | Syndrome | Phenotype | Facies | Female | Models, Genetic | Bone and Bones - abnormalities | Genome | Genomics - methods | Genetic Linkage
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2004, Volume 101, Issue 39, pp. 14126 - 14131
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2019, Volume 105, Issue 2, pp. 425 - 433
While genetic causes are known for many syndromes involving developmental anomalies, a large number of individuals with overlapping phenotypes remain... 
WDR37 | dominant | syndrome | CRISPR-Cas9 | Peters plus | Walker-Warburg | seizures | zebrafish | coloboma | Peters | B3GALTL | MICROPHTHALMIA | MUTATIONS | PETERS PLUS SYNDROME | ANOPHTHALMIA | GENETICS & HEREDITY | Gene mutations | Physiological aspects | Child development deviations | Genetic aspects | Research | Risk factors | Developmental disabilities
Journal Article
Journal Article