Clinical and Functional Characterization of a Patient Carrying a Compound Heterozygous Pericentrin Mutation and a Heterozygous IGF1 Receptor Mutation-Reference-Cited by-同舟云学术

Clinical and Functional Characterization of a Patient Carrying a Compound Heterozygous Pericentrin Mutation and a Heterozygous IGF1 Receptor Mutation

Published:2012-05-31 Issue:5 Volume:7 Page:e38220
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

Müller Eva,Dunstheimer Desiree,Klammt Jürgen,Friebe Daniela,Kiess Wieland,Kratzsch Jürgen,Kruis Tassilo,Laue Sandy,Pfäffle Roland,Wallborn Tillmann,Heidemann Peter H.

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference44 articles.

1. Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review.;F Majewski;Am J Med Genet,1998

2. Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism.;F Majewski;Am J Med Genet,1982

3. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.;A Rauch;Science,2008

4. Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay.;P Fang;J Clin Endocrinol Metab,2009

5. Clinical and functional characteristics of the human Arg59Ter insulin-like growth factor i receptor (IGF1R) mutation: implications for a gene dosage effect of the human IGF1R.;K Raile;J Clin Endocrinol Metab,2006

Cited by 15 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size;Cells;2023-07-07

2. Investigation of Igf-1, Igf-Bp3 and Igf-Bp5 levels in umbilical cord blood of infants with developmental dysplasia of the hip;Turkish Journal of Medical Sciences;2023-01-01

3. Targeting Insulin-Like Growth Factor-I in Management of Neurological Disorders;Neurotoxicity Research;2022-04-27

4. Genetic causes of growth hormone insensitivity beyond GHR;Reviews in Endocrine and Metabolic Disorders;2020-10-08

5. Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria;The Journal of Clinical Endocrinology & Metabolism;2020-04-20