TY  - JOUR 
AU  - Couselo Rodríguez, Carmen
AU  - Batalla Cebey, Ana
AU  - González Sixto, Beatriz
AU  - Oro Ayude, Marcos
AU  - Álvarez Álvarez, Carlos
AU  - Loidi Fernández de Trocóniz, Lourdes
AU  - Florez  Menendez, Maria Angeles
PY  - 2023
UR  - http://hdl.handle.net/20.500.11940/22842
AB  - [EN] We report the glomulin pathogenic mutation c.1319G > A, p.Trp440, which has not been reported to date associated with glomuvenous malformation patients. Defining the causative mutation is extremely important in genetic counseling. Since this...
LA  - eng
KW  - Genetic Counseling
KW  - Glomus Tumor
KW  - Inheritance Patterns
TI  - Two cases of familial glomuvenous malformation and description of a novel pathogenic mutation in glomulin gene (GLMN)
DO  - doi.org/10.1111/ijd.16246
T2  - International Journal of Dermatology
M2  - e63
KW  - Glomulin mutation
KW  - Autosomal-dominant inheritance
KW  - CHUP
KW  - IISGS
KW  - FPGMX
VL  - 62
ER  -