Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Thyroiddyshormonogenesis 1

Die Thyroiddyshormonogenesis 1 ist eine autosomal rezessive Erkrankung der Schilddrüsenhormonbildung mit ungenügenden Schilddrüsenhormonwerten und Struma, die durch Mutationen im SLC5A5-Gen verursacht wird.

Gliederung

Thyroiddyshormonogenesis
Pendred-Syndrom
Thyroiddyshormonogenesis 1
SLC5A5
Thyroiddyshormonogenesis 2a
Thyroiddyshormonogenesis 3
Thyroiddyshormonogenesis 4
Thyroiddyshormonogenesis 5
Thyroiddyshormonogenesis 6

Referenzen:

1.

Park SM et. al. (2005) Genetics of congenital hypothyroidism.

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2.

Vono-Toniolo J et. al. (2005) Naturally occurring mutations in the thyroglobulin gene.

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3.

Fujiwara H et. al. (1997) Congenital hypothyroidism caused by a mutation in the Na+/I- symporter.

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4.

Kosugi S et. al. (1998) Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients.

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5.

Kempers MJ et. al. (2009) Morphological abnormalities in children with thyroidal congenital hypothyroidism.

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6.

Toyoshima K et. al. (1977) Five cases of absence of iodide concentrating mechanism.

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7.

Medeiros-Neto GA et. al. (1972) Partial defect of iodide trapping mechanism in two siblings with congenital goiter and hypothyroidism.

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8.

STANBURY JB et. al. (1960) Congenital hypothyroidism with goitre. Absence of an iodide-concentrating mechanism.

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9.

GILBOA Y et. al. (1963) GOITROUS MYXEDEMA DUE TO IODIDE TRAPPING DEFECT.

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