| scholarly article | Q13442814 |
| P356 | DOI | 10.1002/(SICI)1096-8628(19970905)71:4<472::AID-AJMG19>3.0.CO;2-D |
| P698 | PubMed publication ID | 9286458 |
| P2093 | author name string | Jaeken J | |
| Cools F | |||
| P2860 | cites work | Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency | Q34057213 |
| A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation | Q34283519 | ||
| Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients | Q34685121 | ||
| Congenital diseases of intrahepatic bile ducts: variations on the theme "ductal plate malformation" | Q35380232 | ||
| The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients | Q59829235 | ||
| Multisystem obstruction with cholestasis, pigmentary retinopathy, and cleft palate: a new syndrome? | Q68037798 | ||
| P433 | issue | 4 | |
| P304 | page(s) | 472-474 | |
| P577 | publication date | 1997-09-01 | |
| P1433 | published in | American Journal of Medical Genetics Part A | Q15755121 |
| P1476 | title | Hardikar syndrome: a new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis. | |
| P478 | volume | 71 |
| Q53310100 | Aortic coarctation and carotid artery aneurysm in a patient with Hardikar syndrome: Cardiovascular implications for affected individuals. |
| Q103002742 | De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females |
| Q52058585 | Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management. |
| Q58193310 | Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot |
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