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Homozygous SALL1 mutation causes a novel multiple congenital anomaly - Mental retardation syndrome

Abstract:

Objective: To delineate a novel autosomal recessive multiple congenital anomaly-mental retardation (MCA-MR) syndrome in 2 female siblings of a consanguineous pedigree and to identify the disease-causing mutation. Study design: Both siblings were clinically characterized and homozygosity mapping and sequencing of candidate genes were applied. The contribution of nonsense-mediated messenger RNA (mRNA) decay to the expression of mutant mRNA in fibroblasts of a healthy carrier and a control was s...

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Publisher copy:
10.1016/j.jpeds.2012.08.042

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Journal:
Journal of Pediatrics More from this journal
Volume:
162
Issue:
3
Pages:
612-617
Publication date:
2013-03-01
DOI:
EISSN:
1097-6833
ISSN:
0022-3476
Language:
English
Pubs id:
pubs:389463
UUID:
uuid:66408dbf-54cc-4a91-95eb-6796d8644e87
Local pid:
pubs:389463
Source identifiers:
389463
Deposit date:
2013-11-17

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