| scholarly article | Q13442814 |
| case report | Q2782326 |
| P50 | author | Huda Zoghbi | Q1633764 |
| P2093 | author name string | W Zhang | |
| C A Bacino | |||
| D W Stockton | |||
| I B Van Den Veyver | |||
| R Amir | |||
| P2860 | cites work | Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com | Q28115860 |
| The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase | Q28506480 | ||
| Reconstructing the history of human limb development: lessons from birth defects | Q33544146 | ||
| Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation | Q34206865 | ||
| Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis | Q35195094 | ||
| Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females. | Q35889152 | ||
| A syndrome of digital fibromas, facial pigmentary dysplasia, and metacarpal and metatarsal disorganization | Q38462020 | ||
| Recurring digital fibroma of infancy | Q39322174 | ||
| Avoiding recomputation in linkage analysis. | Q52374502 | ||
| P433 | issue | 4 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | terminal osseous dysplasia with pigmentary defects | Q7702740 |
| P304 | page(s) | 1461-1464 | |
| P577 | publication date | 2000-03-17 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter | |
| P478 | volume | 66 |
| Q36953295 | A genome wide linkage scan of metacarpal size and geometry in the Framingham Study |
| Q35443982 | A genome-wide linkage scan for bone mineral density in an extended sample: evidence for linkage on 11q23 and Xq27. |
| Q50907815 | A whole genome linkage scan for QTLs underlying peak bone mineral density. |
| Q52105733 | Clinical manifestations of terminal osseous dysplasia and pigmentary defects in a young girl |
| Q37343421 | Diagnosis and treatment of digitocutaneous dysplasia, a rare infantile digital fibromatosis: a case report |
| Q39546773 | Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome |
| Q24620559 | Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene |
| Q51905478 | Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. |
| Q89931849 | The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis |
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