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Kongenitale Hypothyreose ohne Struma 2

Die kongenitale Hypothyreose ohne Struma 2 ist eine autosomal dominante Erkrankung, die durch Mutationen im PAX8-Gen ausgelöst wird.

Gliederung

Kongenitale Hypothyreose ohne Struma
Kongenitale Hypothyreose ohne Struma 1
Kongenitale Hypothyreose ohne Struma 2
PAX8
Kongenitale Hypothyreose ohne Struma 3
Kongenitale Hypothyreose ohne Struma 4
Kongenitale Hypothyreose ohne Struma 5
Kongenitale Hypothyreose ohne Struma 6

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BLIZZARD RM et al. (1960) Maternal autoimmunization to thyroid as a probable cause of athyrotic cretinism.

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NAJJAR SS et al. (1965) THE KOCHER-DEBR'E-S'EM'ELAIGNE SYNDROME; HYPOTHYROIDISM WITH MUSCULAR "HYPERTROPHY".

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OMIM.ORG article

Omim 218700 external link
Update: 14. August 2020
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