| scholarly article | Q13442814 |
| P50 | author | Alan D. Irvine | Q39066910 |
| P2093 | author name string | Ning Li | |
| Jun Yu | |||
| Xue Zhang | |||
| Xin Li | |||
| W H Irwin McLean | |||
| Chaoxia Lu | |||
| Dai Zhang | |||
| Dan Lv | |||
| Dandan Shang | |||
| Fen Ma | |||
| Guang He | |||
| Jiajie Hao | |||
| Lihua Cao | |||
| Lin He | |||
| Miao Sun | |||
| Ming-Rong Wang | |||
| Qi Dong | |||
| Qing Liu | |||
| Rui Hua | |||
| Wilson H Y Lo | |||
| Wu Dong | |||
| Yang Luo | |||
| Yaran Wen | |||
| Yiming Xu | |||
| Yongyong Shi | |||
| Zugen Chen | |||
| P2860 | cites work | Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes | Q21145278 |
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| Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer. | Q54536880 | ||
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| P433 | issue | 6 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | hypertrichosis | Q595010 |
| congenital disorder | Q727096 | ||
| P304 | page(s) | 807-13 | |
| P577 | publication date | 2009-06-01 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia | |
| P478 | volume | 84 |
| Q35899350 | 17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations |
| Q52660843 | A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures. |
| Q43737132 | A novel X-linked disorder with developmental delay and autistic features |
| Q37084804 | Clinical assessment and genomic landscape of a consanguineous family with three Kallmann syndrome descendants |
| Q35852184 | Congenital Generalized Hypertrichosis, Gingival Hyperplasia, a Coarse Facies with Constriction Bands: A Rare Association |
| Q38620691 | Congenital hypertrichosis universalis in Mexican female twins |
| Q36966119 | Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome |
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| Q52939486 | De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features. |
| Q21132024 | Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders |
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| Q43594777 | Genetic hair diseases. An update |
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| Q33997913 | Haplo2Ped: a tool using haplotypes as markers for linkage analysis |
| Q35609038 | Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect |
| Q21144873 | Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth |
| Q52608817 | Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype. |
| Q35106426 | Observations on Copy Number Variations in a Kidney-yang Deficiency Syndrome Family |
| Q35796731 | Porcine SOX9 Gene Expression Is Influenced by an 18 bp Indel in the 5'-Untranslated Region |
| Q34650754 | Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis. |
| Q64039968 | Rare Diseases with Periodontal Manifestations |
| Q33614753 | Refinement of the GINGF3 locus for hereditary gingival fibromatosis |
| Q53229089 | SOX9 regulates ERBB signalling in pancreatic cancer development. |
| Q38058727 | Systems genetics in "-omics" era: current and future development |
| Q28505316 | Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis |
| Q37968535 | Unveiling the roots of monogenic genodermatoses: genotrichoses as a paradigm |
| Q57906425 | Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations inABCC9 |
| Q35039915 | X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3 |
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