טוען...
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...
שמור ב:
| הוצא לאור ב: | BMC Med Genet |
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| Main Authors: | , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
BioMed Central
2015
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| נושאים: | |
| גישה מקוונת: | 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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