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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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Authors


Labarta, JI More by this author
Fernández-Cancio, M More by this author
Andaluz, P More by this author
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Journal:
Clinical endocrinology
Volume:
78
Issue:
2
Pages:
255-262
Publication date:
2013-02-05
DOI:
EISSN:
1365-2265
ISSN:
0300-0664
URN:
uuid:a841c027-c7dd-4a50-ae08-d7197655be73
Source identifiers:
410523
Local pid:
pubs:410523

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