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Article

Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2000

Schoner Katharina, Fritz Barbara, Huelskamp Georg, Louwen Frank, Zenker Martin, Moll Roland, Rehder Helga

Abstract excerpt

We report on a triplet pregnancy of consanguineous parents with one fetus being affected by recurrent Johanson-Blizzard syndrome (JBS). At autopsy in the 35th gestational week, the affected triplet presented with an especially severe and lethal manifestation of the disorder as compared to his elder affected brother and to cases in the literature, thus exemplifying great interfamilial and intrafamilial phenotypic...

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Identifiers

PMID: 21711208
DOI: 10.2350/11-04-1020-OA.1

Genes

UBR1

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