| case report | Q2782326 |
| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1103128439 |
| P356 | DOI | 10.1186/S12887-018-1108-9 |
| P932 | PMC publication ID | 5883641 |
| P698 | PubMed publication ID | 29618326 |
| P2093 | author name string | Neerja Gupta | |
| Madhulika Kabra | |||
| Sheffali Gulati | |||
| C M Sreedhar | |||
| Kunal Tewari | |||
| Akbar Mohammad | |||
| Ritu Mehta | |||
| Vishal V Tewari | |||
| P2860 | cites work | A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22 | Q64042441 |
| Leukodystrophy associated with oligodontia in a large inbred family: fortuitous association or new entity? | Q73046638 | ||
| Tissue-specific differences in human transfer RNA expression | Q28469081 | ||
| Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature | Q30976896 | ||
| Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations | Q34591305 | ||
| Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy | Q35204958 | ||
| Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description. | Q35708770 | ||
| Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. | Q35863467 | ||
| Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy. | Q35902809 | ||
| Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia | Q35945599 | ||
| More than hypomyelination in Pol-III disorder | Q37231887 | ||
| Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth | Q37265440 | ||
| New case of 4H syndrome and a review of the literature | Q37732772 | ||
| Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism (4H) Syndrome With Vertebral Anomalies: A Novel Association | Q41742183 | ||
| Leukoencephalopathy with ataxia, hypodontia, and hypomyelination. | Q42477360 | ||
| An Indian boy with a novel leukodystrophy: 4H syndrome | Q43977690 | ||
| 4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations | Q48596262 | ||
| Ataxia, Delayed Dentition and Hypomyelination: A Novel Leukoencephalopathy | Q57206868 | ||
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P433 | issue | 1 | |
| P921 | main subject | homozygosity | Q114049690 |
| P304 | page(s) | 126 | |
| P577 | publication date | 2018-04-04 | |
| P1433 | published in | BMC Pediatrics | Q15750892 |
| P1476 | title | A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report. | |
| P478 | volume | 18 |
| Q92657327 | POLR3A variants with striatal involvement and extrapyramidal movement disorder | cites work | P2860 |
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