Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description

BACKGROUND: The 4H syndrome (hypomyelination, hypodontia, hypogonadotropic hypogonadism) is a newly recognized leukodystrophy. The classical form is characterized by the association of hypomyelination, abnormal dentition, and hypogonadotropic hypogonadism, but the recent identification of two genes...

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Publicado en:BMC Med Genet
Autores principales: Battini, Roberta, Bertelloni, Silvano, Astrea, Guja, Casarano, Manuela, Travaglini, Lorena, Baroncelli, Giampiero, Pasquariello, Rosa, Bertini, Enrico, Cioni, Giovanni
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4557838/
https://ncbi.nlm.nih.gov/pubmed/26204956
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0203-0
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