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Article

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

American journal of medical genetics. Part A - 15 Sept 2008

Hsieh Elena W Y, Vargervik Karin, Slavotinek Anne M

Abstract excerpt

Opitz G/BBB syndrome is characterized by midline abnormalities such as hypertelorism, cleft palate, and hypospadias. This syndrome is heterogeneous with an X-linked recessive form caused by mutations in the MID1 gene at band Xp22.3. However, mutations in MID1 have only been identified in 47% of familial cases of X-linked Opitz G/BBB syndrome, and 13% of sporadic cases. We performed a phenotype-genotype analysis...

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Source

Identifiers

PMID: 18697196
DOI: 10.1002/ajmg.a.32368

Genes

MID1

Provenance

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation.PMID 18697196Read ↗

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

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

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

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

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

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

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

Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome.Semantic proximity Read ↗

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

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

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