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Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome
- Source :
- Scopus, BMC Medical Genetics, BMC Medical Genetics, 2014, 15 (1), pp.51. ⟨10.1186/1471-2350-15-51⟩, RUO. Repositorio Institucional de la Universidad de Oviedo, instname, BMC Medical Genetics, BioMed Central, 2014, 15 (1), pp.51. ⟨10.1186/1471-2350-15-51⟩
- Publication Year :
- 2014
-
Abstract
- This work was supported by grants from Ministerio de Economía y Competitividad-Spain and Red Temática de Investigación del Cáncer (RTICC).<br />This work was supported by grants from Ministerio de Economía y Competitividad-Spain and Red Temática de Investigación del Cáncer (RTICC). C.L-O. is an Investigator of the Botín Foundation. V.Q. is a Ramón y Cajal Investigator with the Consolider-Ingenio RNAREG Consortium. The Instituto Universitario de Oncología is supported by Obra Social Cajastur and Instituto de Salud Carlos III (RTICC).<br />Bárcena, C., Quesada, V., De Sandre-Giovannoli, A., Puente, D.A., Fernández-Toral, J., Sigaudy, S., Baban, A., Lévy, N., Velasco, G., López-Otín, C.
- Subjects :
- Male
Models, Molecular
Pediatrics
Aging
Kinase
Lipodystrophy
Protein Conformation
DNA Mutational Analysis
Case Report
Phosphatidylinositol 3-Kinases
0302 clinical medicine
Progeria
Insulin
Genetics(clinical)
Exome
Growth Disorders
Genetics (clinical)
Exome sequencing
0303 health sciences
Teething
Diabetes
High-Throughput Nucleotide Sequencing
3. Good health
Class Ia Phosphatidylinositol 3-Kinase
Nephrocalcinosis
Phenotype
SHORT syndrome
Child, Preschool
030220 oncology & carcinogenesis
medicine.symptom
medicine.medical_specialty
Biology
Rieger anomaly
[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics
Short stature
03 medical and health sciences
Metabolic Diseases
Internal medicine
Genetics
medicine
[SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology
Humans
[SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology
030304 developmental biology
Facies
Infant
Bone age
medicine.disease
stomatognathic diseases
Endocrinology
Amino Acid Substitution
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Mutation
Hypercalcemia
Subjects
Details
- Language :
- English
- ISSN :
- 14712350
- Database :
- OpenAIRE
- Journal :
- Scopus, BMC Medical Genetics, BMC Medical Genetics, 2014, 15 (1), pp.51. ⟨10.1186/1471-2350-15-51⟩, RUO. Repositorio Institucional de la Universidad de Oviedo, instname, BMC Medical Genetics, BioMed Central, 2014, 15 (1), pp.51. ⟨10.1186/1471-2350-15-51⟩
- Accession number :
- edsair.doi.dedup.....48901a4fa70549c23e572000a90ff3de
- Full Text :
- https://doi.org/10.1186/1471-2350-15-51⟩