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Article

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

Human molecular genetics - 12 Oct 2000

Cox T C, Allen L R, Cox L L, Hopwood B, Goodwin B, Haan E, Suthers G K

Abstract excerpt

Opitz syndrome (OS) is a genetically heterogeneous malformation disorder. Patients with OS may present with a variable array of malformations that are indicative of a disturbance of the primary midline developmental field. Mutations in the C-terminal half of MID1, an RBCC (RING, B-box and coiled-coil) protein, have recently been shown to underlie the X-linked form of OS. Here we show that the MID1 gene spans at...

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Source

Identifiers

PMID: 11030761
DOI: 10.1093/hmg/9.17.2553

Genes

MID1

Provenance

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.

Related research

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New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome.PMID 11030761Read ↗

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

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

A structure-function study of MID1 mutations associated with a mild Opitz phenotype.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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