Literature DB >> 8244336

Human malformations similar to those in the mouse mutation disorganization (Ds).

N H Robin1, O O Adewale, D McDonald-McGinn, J H Nadeau, E H Zackai, M Bućan.   

Abstract

We report two patients with malformations similar to those seen in mice with the disorganization (Ds) mutation. The first case has a body wall defect, limb malformation, and hamartoma, while the second case has a partially duplicated foot, in addition to the other anomalies. We discuss the implications that recent advances regarding the genetic analysis of the mouse Ds locus have for the search for the human homologue.

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Year:  1993        PMID： 8244336     DOI： 10.1007/bf00216451

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  20 in total

1.  The inheritance and expression of disorganization, an unusual mutation in the mouse.

Authors:  K P HUMMEL
Journal:  J Exp Zool       Date:  1958-04

Review 2.  Mouse chromosome 14.

Authors:  J H Nadeau; R Cox
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

3.  Body wall defects with reduction limb anomalies: a report of fifteen cases.

Authors:  R A Pagon; T D Stephens; B C McGillivray; J R Siebert; V J Wright; L L Hsu; B J Poland; I Emanuel; J G Hall
Journal:  Birth Defects Orig Artic Ser       Date:  1979

4.  Reduplication of bones of lower extremity.

Authors:  K K Srivastava; L D Garg
Journal:  J Bone Joint Surg Am       Date:  1971-10       Impact factor: 5.284

5.  Congenital duplication of the foot and toes.

Authors:  M C Leeson; P G Wilcox; D S Weiner
Journal:  Foot Ankle       Date:  1985 Jan-Feb

6.  Familial limb deficiency.

Authors:  A Hoon; J G Hall
Journal:  Clin Genet       Date:  1988-08       Impact factor: 4.438

7.  Structural defects as a consequence of early intrauterine constraint: limb deficiency, polydactyly, and body wall defects.

Authors:  M E Miller
Journal:  Semin Perinatol       Date:  1983-10       Impact factor: 3.300

8.  Partial duplication of the lower limb. A case report.

Authors:  D M Billett; J N Bear
Journal:  J Bone Joint Surg Am       Date:  1978-12       Impact factor: 5.284

9.  Cleft lip and palate, sensorineural deafness, and sacral lipoma in two brothers: a possible example of the disorganisation mutant.

Authors:  R B Lowry; S L Yong
Journal:  J Med Genet       Date:  1991-02       Impact factor: 6.318

Review 10.  Partial duplication of the lower limb with agenesis of ipsilateral kidney--a new syndrome: report of a case and review of the literature.

Authors:  B Weisselberg; T Ben-Ami; R M Goodman
Journal:  Clin Genet       Date:  1988-03       Impact factor: 4.438
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  2 in total

1.  Triophthalmia and facial clefting: a case report.

Authors:  S M Tayel; M A Sabry; N A Kader; S Farah; S A Al-Awadi; T I Farag
Journal:  J Med Genet       Date:  1998-10       Impact factor: 6.318

2.  The Orthopaedic Management of Human Disorganization Syndrome.

Authors:  Kevin Smit; Judy So; Emily Schaeffer; Linlea Armstrong; Cindy Verchere; Kishore Mulpuri
Journal:  J Am Acad Orthop Surg Glob Res Rev       Date:  2020-06-15
  2 in total

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