Connexin 30

06 Oct 15

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Connexin 26

06 Oct 15

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Deafness, nonsyndromic (GJB6)

06 Oct 15

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SNP array

06 Oct 15

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Smith-Lemli-Opitz syndrome (DHCR7)

06 Oct 15

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Smith-Fineman-Myers syndrome (ATRX)

06 Oct 15

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SCN1A (sodium channel, voltage-gated, type I, alpha subunit)

06 Oct 15

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PTEN Hamartoma Tumor syndromes (Cowden, Bannayan-Riley-Ruvalcaba, Proteus/Proteus-Like; Autism with macrocephaly)

06 Oct 15

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Dysplastic nevus syndrome (CDKN2A)

06 Oct 15

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Rubinstein-Taybi syndrome (CREBBP, EP300)

06 Oct 15

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La mutación G202A, en hijo hemicigoto (arriba) y madre heterocigota (abajo). Esta mutación acompañada de la mutación A376G ó T968C definen la variante africana negativa.

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Arriba se muestra el resultado de un niño hemicigoto para la variante africana negativa, caracterizada por las mutaciones A376G y G202A, y abajo de una niña heterocigota para la variante Mediterránea, definida por la mutación C563T.

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The G202A mutation, in the hemizygous son (above) and heterozygous mother (below). This
mutation accompanied with the A376G mutation or T968C define the african negative variant.

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Above the result of a hemizygous child with the african negative variant , characterized by
mutations A376G and G202A , and below a heterozygous girl with the mediterranean variant, defined by the C563T mutation

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