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Article

Lethal persistent pulmonary hypertension of the newborn in Bohring-Opitz syndrome.

American journal of medical genetics. Part A - 1 May 2018

Kibe Masaya, Ibara Satoshi, Inagaki Hidehito, Kato Takema, Kurahashi Hiroki, Ikeda Toshiro

Abstract excerpt

Bohring-Opitz syndrome (BOS) is a rare disease with a number of characteristic features, including hypertelorism, prominent metopic suture, exophthalmos, cleft palate, abnormal posture, and developmental retardation. Here, we report a BOS patient presenting with lethal persistent pulmonary hypertension of the newborn (PPHN) and inspiratory respiratory failure. The female infant was treated with nitric oxide and...

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Source

Identifiers

PMID: 29681105
DOI: 10.1002/ajmg.a.38681

Genes

ASXL1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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