OMIM: 226980Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | EIF2AK3 |
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| Dna Change: | c.2704C>T |
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| Protein Change: | p.R902X |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 13 |
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| Transcript: | |
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References
Spehar Uroić A, Mulliqi Kotori V, Rojnić Putarek N, Kušec V, Dumić M, Primary hypothyroidism and nipple hypoplasia in a girl with Wolcott-Rallison syndrome.Eur. J. Pediatr.. 2014; 173(4):529-31