Paula Ocaranza Marjorie C Golekoh Shayne F Andrew Michael H Guo Paul Kaplowitz Howard Saal Ron G Rosenfeld Andrew Dauber Fernando Cassorla Philippe F Backeljauw Vivian Hwa
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Horm Res Paediatr
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facs analysis igf1r copy number variants short stature whole exome sequencing
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/28395282/
Growth Disorders / genetics Haploinsufficiency Receptors, Somatomedin / genetics
Growth Disorders / genetics Haploinsufficiency Receptors, Somatomedin / genetics Case Reports Child Exome Female Growth Disorders / diagnosis Humans Receptor, IGF Type 1 IGF1R protein, human Receptors, Somatomedin Receptor, IGF Type 1
PMC5509495
28395282
Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies
2017