Literature DB >> 27341828

[Focal dermal hypoplasia (Goltz-Gorlin syndrome) : The cause is now known].

K A Giehl1.   

Abstract

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Year:  2016        PMID： 27341828     DOI： 10.1007/s00105-016-3823-1

Source DB:  PubMed          Journal:  Hautarzt        ISSN： 0017-8470            Impact factor:   0.751


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  4 in total

1.  Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.

Authors:  Bret Bostwick; Ping Fang; Ankita Patel; V Reid Sutton
Journal:  Am J Med Genet C Semin Med Genet       Date:  2016-02-07       Impact factor: 3.908

2.  Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz-Gorlin syndrome).

Authors:  Kathleen J Motil; Mary Fete; Timothy J Fete
Journal:  Am J Med Genet C Semin Med Genet       Date:  2016-02-01       Impact factor: 3.908

3.  Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.

Authors:  Xiaoling Wang; V Reid Sutton; J Omar Peraza-Llanes; Zhiyin Yu; Rebecca Rosetta; Ying-Chuck Kou; Tanya N Eble; Ankita Patel; Christina Thaller; Ping Fang; Ignatia B Van den Veyver
Journal:  Nat Genet       Date:  2007-06-03       Impact factor: 38.330

4.  PORCN mutations in focal dermal hypoplasia: coping with lethality.

Authors:  Dorothea Bornholdt; Frank Oeffner; Arne König; Rudolf Happle; Yasemin Alanay; Jeffrey Ascherman; Paul J Benke; María del Carmen Boente; Ineke van der Burgt; Nicolas Chassaing; Ian Ellis; Christina Raissa I Francisco; Patricia Della Giovanna; Ben Hamel; Cristina Has; Kaatje Heinelt; Andreas Janecke; Wolfgang Kastrup; Bart Loeys; Ingo Lohrisch; Carlo Marcelis; Yasmin Mehraein; Marie Eleanore O Nicolas; Dana Pagliarini; Mauro Paradisi; Annalisa Patrizi; Maria Piccione; Hildegunde Piza-Katzer; Bettina Prager; Katrina Prescott; Juliane Strien; G Eda Utine; Marc S Zeller; Karl-Heinz Grzeschik
Journal:  Hum Mutat       Date:  2009-05       Impact factor: 4.878
  4 in total

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