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Article

Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome

27 Jan 2019

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 30690205
DOI: 10.1016/j.ejmg.2019.01.009

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Novel variant in the KCNK9 gene in a girl with Birk Barel syndromePMID 30690205Read ↗

KID syndrome in a Malaysian child with identification of novel heterozygous missense mutation GJB2 c.581T>A(p. 194Phe>Tyr).Semantic proximity Read ↗

Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.Semantic proximity Read ↗

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Description of a novel mutation leading to MYH9-related disease.Semantic proximity Read ↗

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