Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.

doi:10.1002/ajmg.a.30407

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Article

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.

American journal of medical genetics. Part A - 1 Jan 2005

So Joyce, Suckow Vanessa, Kijas Zofia, Kalscheuer Vera, Moser Bettina, Winter Jennifer, Baars Marieke, Firth Helen, Lunt Peter, Hamel Ben, Meinecke Peter, Moraine Claude, Odent Sylvie, Schinzel Albert, van der Smagt J J, Devriendt Koen, Albrecht Beate, Gillessen-Kaesbach Gabriele, van der Burgt Ineke, Petrij Fred, Faivre Laurence, McGaughran Julie, McKenzie Fiona, Opitz John M, Cox Timothy, Schweiger Susann

Abstract excerpt

Opitz syndrome (OS; MIM 145410 and MIM 300000) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal (LTE) abnormalities, imperforate anus, developmental delay, and cardiac defects. The X-linked form (XLOS) is caused by mutations in the MID1 gene, which encodes a microtubule-associated RBCC protein. In this study, phenotypic...

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Identifiers

PMID: 15558842
DOI: 10.1002/ajmg.a.30407

Genes

MID1

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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.

Related research

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Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.PMID 15558842Read ↗

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X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.Semantic proximity Read ↗

X-linked Opitz G/BBB syndrome: identification of a novel mutation and prenatal diagnosis in a Korean family.Semantic proximity Read ↗

MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified.Semantic proximity Read ↗

New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome.Semantic proximity Read ↗

R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome.Semantic proximity Read ↗

A structure-function study of MID1 mutations associated with a mild Opitz phenotype.Semantic proximity Read ↗

Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation.Semantic proximity Read ↗

Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome.Semantic proximity Read ↗

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

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.Semantic proximity Read ↗

Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.Semantic proximity Read ↗

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