Literature DB >> 5935752

Carpenter's syndrome: acrocephalopolysyndactyly. An autosomal recessive syndrome.

S A Temtamy.   

Abstract

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Year:  1966        PMID： 5935752     DOI： 10.1016/s0022-3476(66)80368-2

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  11 in total

1.  Webbed fingers.

Authors:  Adrian E Flatt
Journal:  Proc (Bayl Univ Med Cent)       Date:  2005-01

2.  The Greig polysyndactyly-craniofacial dysmorphism syndrome.

Authors:  J P Fryns; W Coeck; H van den Berghe
Journal:  Eur J Pediatr       Date:  1977-11-04       Impact factor: 3.183

3.  A sporadic case of apparent Crouzon's syndrome with extracraniofacial manifestations.

Authors:  M A Leonard
Journal:  J Med Genet       Date:  1974-06       Impact factor: 6.318

4.  [A new point of view on the pathogenesis and therapy of craniosynostoses. II. Clinical neurologic symptoms].

Authors:  R Müke
Journal:  Acta Neurochir (Wien)       Date:  1972       Impact factor: 2.216

5.  Carpenter's syndrome. Report of a case.

Authors:  S Saxena; J C Sharma; O P Garg
Journal:  Indian J Pediatr       Date:  1970-12       Impact factor: 1.967

6.  Carpenter syndrome with normal intelligence and precocious growth.

Authors:  J White; D B Boldt; D J David; L Sheffield; D A Simpson
Journal:  Acta Neurochir (Wien)       Date:  1981       Impact factor: 2.216

7.  Heptacarpo-octatarso-dactyly combined with multiple malformation.

Authors:  U Töllner; J Horst; E Manzke; M Schmid; H Nestler-Wocher; C Weckler
Journal:  Eur J Pediatr       Date:  1981-05       Impact factor: 3.183

8.  A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family.

Authors:  S Ben-Salem; M A Begum; B R Ali; L Al-Gazali
Journal:  Mol Syndromol       Date:  2012-12-01

9.  RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.

Authors:  Dagan Jenkins; Dominik Seelow; Fernanda S Jehee; Chad A Perlyn; Luis G Alonso; Daniela F Bueno; Dian Donnai; Dragana Josifova; Dragana Josifiova; Irene M J Mathijssen; Jenny E V Morton; Karen Helene Orstavik; Elizabeth Sweeney; Steven A Wall; Jeffrey L Marsh; Peter Nurnberg; Maria Rita Passos-Bueno; Andrew O M Wilkie
Journal:  Am J Hum Genet       Date:  2007-04-18       Impact factor: 11.025

10.  Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

Authors:  Stephen R F Twigg; Deborah Lloyd; Dagan Jenkins; Nursel E Elçioglu; Christopher D O Cooper; Nouriya Al-Sannaa; Ali Annagür; Gabriele Gillessen-Kaesbach; Irina Hüning; Samantha J L Knight; Judith A Goodship; Bernard D Keavney; Philip L Beales; Opher Gileadi; Simon J McGowan; Andrew O M Wilkie
Journal:  Am J Hum Genet       Date:  2012-10-11       Impact factor: 11.025
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