Angela T. Perez-Abad
Berlin, BE, Germany
Last Updated: 09/26/2026
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Found 8 publications
LZTR1 loss-of-function variants associated with café au lait macules with or without freckling.
Journal: Frontiers in neurology
Published: February 25, 2024
The importance of routine genetic testing in pediatric epilepsy surgery.
Journal: Epilepsia open
Published: September 21, 2023
HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 31, 2023
Mast cells, cortistatin, and its receptor, MRGPRX2, are linked to the pathogenesis of chronic prurigo.
Journal: The Journal of allergy and clinical immunology
Published: October 12, 2021
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third.
Journal: Clinical genetics
Published: July 21, 2021
Topical inflammasome inhibition with disulfiram prevents irritant contact dermatitis.
Journal: Clinical and translational allergy
Published: April 19, 2021
Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study.
Journal: Journal of medical Internet research
Published: April 10, 2020
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
Journal: American journal of medical genetics. Part A
Published: January 30, 2020
Showing 1-8 of 8
Last Updated: 09/26/2026