A New HomozygousIGF1RVariant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome-Reference-Cited by-同舟云学术

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A New HomozygousIGF1RVariant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome

Published:2015-08-24 Issue:11 Volume:36 Page:1043-1047
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Prontera Paolo¹,Micale Lucia²,Verrotti Alberto³,Napolioni Valerio⁴,Stangoni Gabriela¹,Merla Giuseppe²

Affiliation:

1. Medical Genetics Unit; University and Hospital of Perugia; Perugia Italy

2. Medical Genetics Unit; IRCCS Casa Sollievo della Sofferenza Hospital; San Giovanni Rotondo Italy

3. Department of Pediatrics; University of Perugia; Perugia 06132 Italy

4. Department of Neurology and Neurological Sciences; Stanford University School of Medicine; Stanford California

Funder

Italian Ministry of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22853/fullpdf

Reference20 articles.

1. Insulin-like growth factor I receptor gene structure;Abbott;J Biol Chem,1992

2. IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation;Abuzzahab;N Engl J Med,2003

3. Prediction of human mRNA donor and acceptor sites from the DNA sequence;Brunak;J Mol Biol,1991

4. SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling;Chudasama;Am J Hum Genet,2013

5. Mutations in PIK3R1 cause SHORT syndrome;Dyment;Am J Hum Genet,2013

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1. Avancées diagnostiques;Perfectionnement en Pédiatrie;2023-01

2. SHORT Syndrome: an Update on Pathogenesis and Clinical Spectrum;Current Diabetes Reports;2022-11-19

3. IGF1R is a mediator of sex-specific metabolism in mice: Effects of age and high-fat diet;Frontiers in Endocrinology;2022-10-20

4. Mutations in GHR and IGF1R Genes as a Potential Reason for the Lack of Catch-Up Growth in SGA Children;Genes;2022-05-11

5. Components of IGF-axis in growth disorders: a systematic review and patent landscape report;Endocrine;2022-05-06

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