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Article

Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses.

Clinical dysmorphology - 1 Jan 2017

Pinto Anna Maria, Imperatore Valentina, Bianciardi Laura, Baldassarri Margherita, Galluzzi Paolo, Furini Simone, Centini Giovanni, Renieri Alessandra, Mari Francesca

Abstract excerpt

Orofacial clefts are the most common congenital craniofacial anomalies and can occur as an isolated defect or be associated with other anomalies such as posterior fossa anomalies as a part of several genetic syndromes. We report two consecutive voluntary pregnancy interruptions in a nonconsanguineous couple following the fetal ultrasound finding of cleft lip and palate and posterior fossa anomalies confirmed by...

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Source

Identifiers

PMID: 27749392
DOI: 10.1097/MCD.0000000000000152

Genes

MID1

Provenance

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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Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses.PMID 27749392Read ↗

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