Literature DB >> 15173243

A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation.

D Genevieve, C Baumann, C Huber, L Faivre, D Sanlaville, C Bodemer, S Hadj-Rabia, A Assoumou, A Verloes, F Raqbi, A Munnich, V Cormier-Daire.   

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Year:  2004        PMID： 15173243      PMCID： PMC1735811          DOI： 10.1136/jmg.2003.013573

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  4 in total

Review 1.  The Genetics of Pneumothorax.

Authors:  Philip M Boone; Rachel M Scott; Stefan J Marciniak; Elizabeth P Henske; Benjamin A Raby
Journal:  Am J Respir Crit Care Med       Date:  2019-06-01       Impact factor: 21.405

Review 2.  Autosomal recessive cutis laxa syndrome revisited.

Authors:  Eva Morava; Maïlys Guillard; Dirk J Lefeber; Ron A Wevers
Journal:  Eur J Hum Genet       Date:  2009-04-29       Impact factor: 4.246

3.  Near-fatal presentation of bilateral pneumothorax in cutis laxa patient: Case report, and review of the literature.

Authors:  Waseem M Hajjar; Areej S Alrajeh; Lulwah S Alturki; Sami A Al-Nassar; Adnan W Hajjar
Journal:  Ann Thorac Med       Date:  2018 Oct-Dec       Impact factor: 2.219

4.  Radiologic findings in cutis laxa syndrome and unusual association with hypertrophic pyloric stenosis.

Authors:  Mehdi Alehossein; Masoud Pourgholami; Kamyar Kamrani; Mohammad Soltani; Afshin Yazdi; Payman Salamati
Journal:  Iran J Radiol       Date:  2013-05-20       Impact factor: 0.212
  4 in total

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