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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease hypodontia
Comorbidity C0023520|leukodystrophy
Sentences 2
PubMedID- 21855841 Because these families were mapped to the same locus as leukodystrophy with oligodontia (lo) and presented clinical and radiological overlap with individuals with hypomyelination, hypodontia and hypogonadotropic hypogonadism (4h) syndrome, we sequenced this gene in nine individuals with 4h and eight with lo.
PubMedID- 24190003 Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to polr3b: look into a leukodystrophy's mouth.

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