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Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome
Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, microcephaly, and dysmorphic facial characteristics. Most affected individuals also have Hirschsprung disease and/or gyral abnormalities of the...
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| Gepubliceerd in: | Iran J Child Neurol |
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| Hoofdauteurs: | , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Shahid Beheshti University of Medical Sciences
2017
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5329763/ https://ncbi.nlm.nih.gov/pubmed/28277559 |
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