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Article

Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations.

European journal of medical genetics - 1 Aug 2013

Migliore Chiara, Athanasakis Emmanouil, Dahoun Sophie, Wonkam Ambroise, Lees Melissa, Calabrese Olga, Connell Fiona, Lynch Sally Ann, Izzi Claudia, Pompilii Eva, Thakur Seema, van Maarle Merel, Wilson Louise C, Meroni Germana

Abstract excerpt

Opitz G/BBB Syndrome (OS) is a multiple congenital anomaly disorder characterized by developmental defects of midline structures. The most relevant clinical signs are ocular hypertelorism, hypospadias, cleft lip and palate, laryngo-tracheo-esophageal abnormalities, imperforate anus, and cardiac defects. Developmental delay, intellectual disability and brain abnormalities are also present. The X-linked form of...

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Source

Identifiers

PMID: 23791568
DOI: 10.1016/j.ejmg.2013.05.009

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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Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations.PMID 23791568Read ↗

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