Benutzer: Gast  Login
Weniger Felder
Einfache Suche
Titel:

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.

Dokumenttyp:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Autor(en):
Pierpont, Elizabeth I; Bennett, Anton M; Schoyer, Lisa; Stronach, Beth; Anschutz, April; Borrie, Sarah C; Briggs, Benjamin; Burkitt-Wright, Emma; Castel, Pau; Cirstea, Ion C; Draaisma, Fieke; Ellis, Michelle; Fear, Vanessa S; Frone, Megan N; Flex, Elisabetta; Gelb, Bruce D; Green, Tamar; Gripp, Karen W; Khoshkhoo, Sattar; Kieran, Mark W; Kleemann, Karolin; Klein-Tasman, Bonita P; Kontaridis, Maria I; Kruszka, Paul; Leoni, Chiara; Liu, Clifford Z; Merchant, Nadia; Magoulas, Pilar L; Moertel, Chri...     »
Abstract:
Germline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes. RASopathies constitute a wide clinical spectrum characterized by distinct facial features, short stature, predisposition to cancer, and variable anomalies in nearly all the major body systems. With increasing global recognition of these conditions, the 8th International RASopathies Symposium spotlighted glob...     »
Zeitschriftentitel:
Am J Med Genet A
Jahr:
2024
Band / Volume:
194
Heft / Issue:
4
Volltext / DOI:
doi:10.1002/ajmg.a.63477
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/37969032
Print-ISSN:
1552-4825
TUM Einrichtung:
Klinik für Kinderkardiologie und angeborene Herzfehler (DHM) (Prof. Ewert)
 BibTeX