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These results suggest that all three of these disorders may represent phenotypic variability at a single genetic locus.<\/jats:p>","DOI":"10.1136\/jmg.29.1.46","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"46-49","source":"Crossref","is-referenced-by-count":18,"title":["Correlation of skeletal muscle biopsy with phenotype in the familial macrocephaly syndromes."],"prefix":"10.1136","volume":"29","author":[{"given":"J H","family":"DiLiberti","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1992,1,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1111\/j.1399-0004.1980.tb01785.x","article-title":"Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia","volume":"18","author":"Ruvalcaba, R.H.A.; Myhre, S.; Smith, D.W.","year":"1980","unstructured":"Ruvalcaba RHA, Myhre S, Smith DW. 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