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Cystic kidneys in fetal Walker-Warburg Syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature
Walker-Warburg syndrome (WWS) is a severe form of congenital muscular dystrophy (CMD) secondary to α-dystroglycanopathy with muscle, brain and eye abnormalities often leading to death in the first weeks of life. It is transmitted in an autosomal recessive pattern, and has been linked to at least fif...
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| Udgivet i: | Am J Med Genet A |
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| Main Authors: | , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2017
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6205885/ https://ncbi.nlm.nih.gov/pubmed/28815891 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38393 |
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