Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-ocu...
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
About this item
Full title
Author / Creator
Kantarci, Sibel , Al-Gazali, Lihadh , Hill, R Sean , Donnai, Dian , Black, Graeme C M , Bieth, Eric , Chassaing, Nicolas , Lacombe, Didier , Devriendt, Koen , Teebi, Ahmad , Loscertales, Maria , Robson, Caroline , Liu, Tianming , MacLaughlin, David T , Noonan, Kristin M , Russell, Meaghan K , Walsh, Christopher A , Donahoe, Patricia K and Pober, Barbara R
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
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Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Donnai-Barrow syndrome is associated with agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing loss and developmental delay. By studying multiplex families, we mapped this disorder to chromosome 2q23.3–31.1 and identified
LRP2
mutations in six families with Donnai-Barr...
Alternative Titles
Full title
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
Authors, Artists and Contributors
Author / Creator
Al-Gazali, Lihadh
Hill, R Sean
Donnai, Dian
Black, Graeme C M
Bieth, Eric
Chassaing, Nicolas
Lacombe, Didier
Devriendt, Koen
Teebi, Ahmad
Loscertales, Maria
Robson, Caroline
Liu, Tianming
MacLaughlin, David T
Noonan, Kristin M
Russell, Meaghan K
Walsh, Christopher A
Donahoe, Patricia K
Pober, Barbara R
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2891728
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2891728
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng2063
