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The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleoprotein complex

The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleoprotein complex

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3774420

The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleoprotein complex

About this item

Full title

The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleoprotein complex

Publisher

Berlin/Heidelberg: Springer-Verlag

Journal title

Human genetics, 2008-03, Vol.123 (2), p.163-176

Language

English

Formats

Publication information

Publisher

Berlin/Heidelberg: Springer-Verlag

More information

Scope and Contents

Contents

Opitz BBB/G syndrome (OS) is a heterogenous malformation syndrome mainly characterised by hypertelorism and hypospadias. In addition, patients may present with several other defects of the ventral midline such as cleft lip and palate and congenital heart defects. The syndrome-causing gene encodes the X-linked E3 ubiquitin ligase MID1 that mediates...

Alternative Titles

Full title

The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleoprotein complex

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3774420

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3774420

Other Identifiers

ISSN

0340-6717

E-ISSN

1432-1203

DOI

10.1007/s00439-007-0456-6

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