Literature DB >> 15326640

Growth hormone deficiency in a case of cerebrofaciothoracic syndrome in one of two affected siblings.

Christina Kanaka-Gantenbein, Helen Fryssira, George Chrousos, George Mastorakos.   

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Year:  2004        PMID： 15326640     DOI： 10.1002/ajmg.a.30151

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  2 in total

1.  Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

Authors:  Davut Pehlivan; Ender Karaca; Hatip Aydin; Christine R Beck; Tomasz Gambin; Donna M Muzny; B Bilge Geckinli; Ali Karaman; Shalini N Jhangiani; Richard A Gibbs; James R Lupski
Journal:  Eur J Hum Genet       Date:  2014-01-15       Impact factor: 4.246

2.  Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.

Authors:  Nicola Brunetti-Pierri; Valentina Esposito; Daniele De Brasi; Dario Maria Mattiacci; Deborah Krakow; Brendan Lee; Mariacarolina Salerno
Journal:  Am J Med Genet A       Date:  2008-05-01       Impact factor: 2.802
  2 in total

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