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Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) gene.

Abstract:

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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Department:
Unknown
Role:
Author
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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

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