| case report | Q2782326 |
| scholarly article | Q13442814 |
| P50 | author | Cheol Woo Ko | Q89141457 |
| P2093 | author name string | Su-Jeong Lee | |
| Jung-Eun Moon | |||
| P2860 | cites work | Growth Hormone Stimulation Tests in Children with Kabuki Syndrome. | Q51484068 |
| Two patients with Kabuki syndrome presenting with endocrine problems. | Q51967694 | ||
| Phenotypic spectrum and management issues in Kabuki syndrome. | Q51985916 | ||
| Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome. | Q52000994 | ||
| Severe congenital anomalies requiring transplantation in children with Kabuki syndrome. | Q52181423 | ||
| Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review. | Q52684712 | ||
| Precocious puberty in Kabuki makeup syndrome | Q68996124 | ||
| Growth Hormone Deficiency and Premature Thelarche in a Female Infant with Kabuki Makeup Syndrome | Q71866980 | ||
| A case of Kabuki make-up syndrome with central diabetes insipidus and growth hormone neurosecretory dysfunction | Q72758344 | ||
| Growth pattern in Kabuki syndrome with a KMT2D mutation | Q88139085 | ||
| Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome | Q24622470 | ||
| Estrogen receptors and human disease | Q24645374 | ||
| Homeobox genes: potential candidates for the transcriptional control of the transformed and invasive phenotype | Q28237198 | ||
| Obesity and disturbed lipoprotein profile in estrogen receptor-alpha-deficient male mice. | Q33926507 | ||
| Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency | Q34057213 | ||
| MLL2 mutation spectrum in 45 patients with Kabuki syndrome | Q34161572 | ||
| Unmasking Kabuki syndrome | Q34310239 | ||
| Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients | Q34685121 | ||
| Kabuki make-up syndrome: a review | Q35057647 | ||
| HOXC6 Is transcriptionally regulated via coordination of MLL histone methylase and estrogen receptor in an estrogen environment | Q35127065 | ||
| How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum | Q35837668 | ||
| Mixed lineage leukemia: roles in gene expression, hormone signaling and mRNA processing. | Q37710711 | ||
| Histone H3 lysine 4 methyltransferase KMT2D. | Q39410059 | ||
| Differential mammary morphogenesis along the anteroposterior axis in Hoxc6 gene targeted mice | Q42795911 | ||
| Growth Hormone Therapy in Children with Kabuki Syndrome: 1-year Treatment Results | Q47972594 | ||
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P433 | issue | 1 | |
| P921 | main subject | Kabuki syndrome | Q1538227 |
| P304 | page(s) | 102 | |
| P577 | publication date | 2018-06-18 | |
| P1433 | published in | BMC Medical Genetics | Q15759918 |
| P1476 | title | A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report | |
| P478 | volume | 19 |
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