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1.
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation.
Mol Genet Genomic Med
; 11(6): e2154, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36840359
2.
A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes.
Eur J Med Genet
; 58(10): 550-5, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-26370006
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