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Article

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

American journal of medical genetics. Part A - 15 Jul 2003

De Falco Francesca, Cainarca Silvia, Andolfi Grazia, Ferrentino Rosa, Berti Caterina, Rodríguez Criado German, Rittinger Olaf, Dennis Nick, Odent Sylvie, Rastogi Amit, Liebelt Jan, Chitayat David, Winter Robin, Jawanda Harindar, Ballabio Andrea, Franco Brunella, Meroni Germana

Abstract excerpt

Opitz (or G/BBB) syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospadias, and additional midline defects. This syndrome is heterogeneous with an X-linked (XLOS) and an autosomal dominant (ADOS) form. The gene implicated in the XLOS form, MID1, encodes a protein cont...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12833403
DOI: 10.1002/ajmg.a.10265

Genes

MID1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12833403-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.PMID 12833403Read ↗

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

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