Short Stature Associated with a Novel Heterozygous Mutation in the<i>Insulin-Like Growth Factor 1</i>Gene

Homozygous IGF1 deletions or mutations lead to severe short stature, deafness, microcephaly, and mental retardation. Heterozygosity for an IGF-I defect may modestly decrease height and head circumference.The objective of the study was to investigate the clinical features of heterozygous carriers of...

ver descrição completa

Na minha lista:

Detalhes bibliográficos
Principais autores:	Hermine A. van Duyvenvoorde, P.A. van Setten, M.J.E. Walenkamp, J. van Doorn, Jens Koenig, Lisbeth Gauguin, Wilma Oostdijk, Claudia Ruivenkamp, Monique Losekoot, John D. Wade, Pierre De Meyts, Marcel Karperien, C. Noordam, Jan M. Wit
Formato:	Artigo
Idioma:	Inglês
Publicado em:	2010
Acesso em linha:	https://doi.org/10.1210/jc.2010-0511 https://academic.oup.com/jcem/article-pdf/95/11/E363/9092711/jcemE363.pdf
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!

Seja o primeiro a deixar um comentário!

Short Stature Associated with a Novel Heterozygous Mutation in the<i>Insulin-Like Growth Factor 1</i>Gene

Registros relacionados