About
Contact & Profiles
A5047509927
Research Areas
- RNA modifications and cancer
- Genetic and Kidney Cyst Diseases
- Renal Diseases and Glomerulopathies
- RNA Research and Splicing
- Connective tissue disorders research
- RNA and protein synthesis mechanisms
- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Systemic Lupus Erythematosus Research
- Nuclear Structure and Function
- RNA regulation and disease
- Genetics and Neurodevelopmental Disorders
- Polyomavirus and related diseases
- PI3K/AKT/mTOR signaling in cancer
Research Institute Hospital 12 de Octubre
2017-2020
10.1038/s10038-017-0398-3
article
EN
Journal of Human Genetics
2018-02-06
10.1038/s41431-019-0418-1
article
EN
European Journal of Human Genetics
2019-05-03
Abstract We report the clinical and genetic findings in a 15‐year‐old Spanish boy presenting prenatal postnatal growth retardation, reduced subcutaneous adipose tissue, premature skin wrinkling, sparse hair, short distal phalanges with small nails, umbilical hernia, wide anterior fontanel, normal cognitive motor development. Exome sequencing uncovered heterozygous mutation SLC25A24 (NM_013386: c.650G>A: p.R217H) that encodes for calcium‐binding mitochondrial carrier protein SCaMC‐1. This...
10.1002/ajmg.a.40496
article
EN
American Journal of Medical Genetics Part A
2018-10-17
10.1007/s12041-019-1165-3
article
EN
Journal of Genetics
2020-01-10
10.1007/s00439-017-1812-9
article
EN
Human Genetics
2017-05-19
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