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In sporadic cases of X linked diseases, germline mosaicism of the proband's mother is difficult to exclude and should be considered in genetic counselling.<\/jats:p>","DOI":"10.1136\/jmg.34.2.137","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"137-140","source":"Crossref","is-referenced-by-count":25,"title":["Germline and somatic mosaicism in a female carrier of Hunter disease."],"prefix":"10.1136","volume":"34","author":[{"given":"R","family":"Froissart","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I","family":"Maire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V","family":"Bonnet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Levade","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Bozon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1997,2,1]]},"reference":[{"key":"ref_1","first-page":"2465","article-title":"The mucopolysaccharidoses","volume-title":"The metabolic basis of inherited disease","author":"Neufeld, E.F.; Muenzer, J.","year":"1995","unstructured":"Neufeld EF, Muenzer J. 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