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

Labarta, JI; Barrio, E; Audí, L; Fernández-Cancio, M; Andaluz, P; de Arriba, A; Puga, B; Calvo, MT; Mayayo, E; Carrascosa, A; Ferrández-Longás, A

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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APA Style

Labarta, J. I., Barrio, E., Audí, L., Fernández-Cancio, M., Andaluz, P., de Arriba, A., Puga, B., Calvo, M. T., Mayayo, E., Carrascosa, A., & Ferrández-Longás, A. (2013). Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) gene. Clinical Endocrinology, 78(2), 255–262.

MLA Style

Labarta, J. I., et al. “Familial Short Stature and Intrauterine Growth Retardation Associated with a Novel Mutation in the IGF-I Receptor (IGF1R) Gene.” Clinical Endocrinology, vol. 78, no. 2, Clinical endocrinology, 2013, pp. 255–62.

Chicago Style

Labarta, JI, E Barrio, L Audí, M Fernández-Cancio, P Andaluz, A de Arriba, B Puga, et al. 2013. “Familial Short Stature and Intrauterine Growth Retardation Associated with a Novel Mutation in the IGF-I Receptor (IGF1R) Gene.” Clinical Endocrinology 78 (2): 255–62.
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