{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:09:04Z","timestamp":1792166944824,"version":"4.4.0"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,4]],"date-time":"2005-06-04T00:00:00Z","timestamp":1117843200000},"content-version":"vor","delay-in-days":6486,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a family in which a brother and sister have pseudoachondroplasia and normal parents. The brother married a normal woman, and they have 2 daughters; one of them has typical changes of pseudoachondroplasia, the other is normal. The most likely explanation in this family is gonadal (germinal cell) mosaicism in one of the grandparents. Other reports of possible autosomal recessive pseudoachondroplasia are reviewed. It is likely that gonadal mosaicism is responsible for a small percentage of cases with what appears to be a new mutation for pseudoachondroplasia.<\/jats:p>","DOI":"10.1002\/ajmg.1320280121","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:58:59Z","timestamp":1118545139000},"page":"143-151","source":"Crossref","is-referenced-by-count":50,"title":["Gonadal mosaicism in pseudoachondroplasia"],"prefix":"10.1002","volume":"28","author":[{"given":"Judith G.","family":"Hall","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John P.","family":"Dorst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Rotta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor A.","family":"McKusick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,4]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb00516.x"},{"issue":"5","key":"e_1_2_1_3_1","first-page":"25","article-title":"Genetic counseling for autosomal dominant disorders with incomplete penetrance","author":"Aylsworth AS","year":"1979","journal-title":"BD: OAS"},{"issue":"12","key":"e_1_2_1_4_1","first-page":"31","article-title":"Achondroplasia in sisters with normal parents","author":"Bowen P","year":"1974","journal-title":"BD:OAS"},{"key":"e_1_2_1_5_1","unstructured":"CranleyRE WilliamsBR KopitsSE DorstJP(1975): Pseudoachondroplastic dysplasia: Five cases representing clinic roentgenographic and histologic heterogeneity. In Bergsma D (ed): \u201cDisorders of Connective Tissue.\u201d"},{"issue":"6","key":"e_1_2_1_5_2","first-page":"205","journal-title":"BD:OAS"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.9.3.316"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01006905"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","unstructured":"DodinvalP Le MarecB(1987): Unexpected familial recurrence of achondroplasia: Which genetic counselling?Am J Med Genet(in press).","DOI":"10.1002\/ajmg.1320280421"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.6.521"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220320"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00186.x"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb02232.x"},{"key":"e_1_2_1_13_1","first-page":"241","article-title":"Pseudoachondroplasia tipo II, presentacion de una familia","volume":"35","author":"Grether P","year":"1983","journal-title":"Rev Invest Clin"},{"issue":"6","key":"e_1_2_1_14_1","first-page":"187","article-title":"Disorders of Connective Tissue","author":"Hall JG","year":"1975","journal-title":"BD:OAS"},{"issue":"4","key":"e_1_2_1_15_1","first-page":"254","article-title":"Pseudoachondroplastic SED, recessive Maroteaux\u2010Lamy type","author":"Hall JG","year":"1969","journal-title":"BD:OAS"},{"issue":"4","key":"e_1_2_1_16_1","first-page":"247","article-title":"Pseudoachondroplastic SED: Recessive Kozlowski type","author":"Hall JG","year":"1969","journal-title":"BD:OAS"},{"issue":"4","key":"e_1_2_1_17_1","first-page":"242","article-title":"The First Conference on the Clinical Delineation of Birth Defects, Part IV. 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