Opitz-Kaveggia syndrome (MED12)

06 Oct 15

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Opitz/BBB syndrome (MID1)

06 Oct 15

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Noonan syndrome (PTPN11, SOS1, RAF1, KRAS, NRAS, SHOC2)

06 Oct 15

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Niemann-Pick disease type A (SMPD1)

06 Oct 15

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Neuroligin 3 /4 (NGLN3, NGLN4)

06 Oct 15

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Neurofibromatosis type 1-like syndrome (SPRED1)

06 Oct 15

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Neurofibromatosis type 1 & 2 (NF1, NF2)

06 Oct 15

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Neurexin 1 (NRXN1)

06 Oct 15

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Multiple endocrine neoplasia, type 2 (RET)

06 Oct 15

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Multiple endocrine neoplasia, type 1 (MEN1)

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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