TY  - JOUR 
AU  - Bea-Mascato, B.
AU  - Valverde Pérez, Diana
PY  - 2023
SN  - 1468-6244
UR  - http://hdl.handle.net/20.500.11940/21442
AB  - Background Alström syndrome (ALMS; #203800) is an ultrarare monogenic recessive disease. This syndrome is associated with variants in the ALMS1 gene, which encodes a centrosome-associated protein involved in the regulation of several ciliary and...
LA  - eng
KW  - Humans
KW  - Alstrom Syndrome
KW  - Cell Cycle Proteins
KW  - Phenotype
KW  - Exons
KW  - Genetic Association Studies
TI  - Genotype-phenotype associations in Alström syndrome: A systematic review and meta-analysis
DO  - 10.1136/jmg-2023-109175
T2  - Journal of Medical Genetics
M2  - 18
VL  - 61
ER  -