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Article

Oblique facial clefts in Johanson-Blizzard syndrome.

American journal of medical genetics. Part A - 1 Jun 2016

Corona-Rivera Jorge Román, Zapata-Aldana Eugenio, Bobadilla-Morales Lucina, Corona-Rivera Alfredo, Peña-Padilla Christian, Solis-Hernández Elizabeth, Guzmán Celina, Richmond Erick, Zahl Christian, Zenker Martin, Sukalo Maja

Abstract excerpt

Johanson-Blizzard syndrome (JBS) is considered as an infrequent, but clinically easily recognizable autosomal recessive entity by the pathognomonic combination of congenital exocrine pancreatic insufficiency and hypoplastic alae nasi, in addition to other distinctive findings such as scalp defects, hypothyroidism, and rectourogenital malformations. There are few reports of patients with JBS in association with...

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Identifiers

PMID: 26989884
DOI: 10.1002/ajmg.a.37630

Genes

UBR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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