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Recurrent amelia has been documented in only a few families most often associated with a different set of malformations. Possibly, mutations in more than one gene with different modes of transmission can lead to this severe limb deficiency. We speculate that the mutation found in our cases interferes with formation of the apical ectodermal ridge in the upper limbs and results in its premature degeneration in the lower limbs. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320560210","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:59:25Z","timestamp":1118512765000},"page":"164-167","source":"Crossref","is-referenced-by-count":12,"title":["New autosomal recessive form of amelia"],"prefix":"10.1002","volume":"56","author":[{"given":"Jacques","family":"Michaud","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denis","family":"Filiatrault","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louis","family":"Dallaire","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie","family":"Lambert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320510116"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01846033"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/jez.1402320217"},{"key":"e_1_2_1_5_1","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1242\/dev.104.3.361","article-title":"Initial limb budding is independent of apical ectodermal ridge activity: Evidence from a limbless mutant","volume":"104","author":"Carrington JL","year":"1988","journal-title":"Development"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00285025"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240402"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440405"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(68)80247-1"},{"key":"e_1_2_1_10_1","first-page":"1","article-title":"Amelia: Incidence and associated defects in a large population","volume":"40","author":"Froster\u2010Iskenius UG","year":"1990","journal-title":"Teratology"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370430"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442399"},{"key":"e_1_2_1_13_1","first-page":"753","article-title":"Cell death and the development of limb form and skeletal pattern in normal and wingless chick embryos","volume":"30","author":"Hinchliffe JR","year":"1973","journal-title":"J Embryol Exp Morphol"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/hdy.1968.33"},{"key":"e_1_2_1_15_1","volume-title":"Unilateral and asymmetric limb defects in man: Delineation of the femur\u2010fibula\u2010ulna complex","author":"Lenz W","year":"1977"},{"issue":"1","key":"e_1_2_1_15_2","first-page":"269","author":"National Foundation\u2010March of Dimes","journal-title":"BD: OAS"},{"key":"e_1_2_1_16_1","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1097\/00003086-198005000-00003","article-title":"Genetics and limb deficiencies","volume":"148","author":"Lenz W","year":"1980","journal-title":"Clin Orthop"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420460510"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350118"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.10.609"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/jez.1402090308"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130113"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420330304"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380107"},{"key":"e_1_2_1_24_1","first-page":"1","article-title":"The proximodistal determination of skeletal parts in the developing chick leg","volume":"68","author":"Rowe DA","year":"1982","journal-title":"J Embryol Exp Morphol"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.10.716"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/244492a0"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90612-3"},{"issue":"5","key":"e_1_2_1_28_1","first-page":"257","article-title":"Congenital hemidysplasia with ichthyosis. 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