Associated Papers
A Novel Missense Mutation in the FGF3 Gene of a Chinese Patient with LAMM Syndrome.
Zhang K et al.
Biochemical Genetics, 2025
Folate receptor α deficiency - Myelin-sensitive MRI as a reliable biomarker to monitor the efficacy and long-term outcome of a new therapeutic approach.
Dreha-Kulaczewski S et al.
Journal of Inherited Metabolic Disease, 2024
Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review.
Jamshidi F et al.
Molecular Genetics & Genomic Medicine, 2023
Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM).
Dill P et al.
Molecular Genetics and Metabolism, 2011
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