Journal article
Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) gene.
- Abstract:
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CONTEXT: IGF-I is essential for normal human growth and mediates its effects through the IGF1R. IGF1R mutations have been associated with varying degrees of intrauterine and postnatal growth retardation. OBJECTIVE: To identify IGF1R gene mutations in a short-statured family with intrauterine growth retardation and microcephaly. METHODS: Direct DNA sequencing was used to identify IGF1R mutations. Multiplex ligation-dependent probe amplification analyses were performed for deletions and duplic...
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- Publisher copy:
- 10.1111/j.1365-2265.2012.04481.x
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Bibliographic Details
- Journal:
- Clinical endocrinology
- Volume:
- 78
- Issue:
- 2
- Pages:
- 255-262
- Publication date:
- 2013-02-01
- DOI:
- EISSN:
-
1365-2265
- ISSN:
-
0300-0664
- Source identifiers:
-
410523
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:410523
- UUID:
-
uuid:a841c027-c7dd-4a50-ae08-d7197655be73
- Local pid:
- pubs:410523
- Deposit date:
- 2013-11-16
Terms of use
- Copyright date:
- 2013
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