Literature DB >> 14708110

What is IFAP syndrome?

Rudolf Happle1.   

Abstract

Mesh：

Year:  2004        PMID： 14708110     DOI： 10.1002/ajmg.a.20353

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


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  2 in total

Review 1.  Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature.

Authors:  Chayim Schell-Apacik; Michael Hardt; Birgit Ertl-Wagner; Eva Klopocki; Matthias Möhrenschlager; Uwe Heinrich; Hubertus von Voss
Journal:  Eur J Pediatr       Date:  2008-01-17       Impact factor: 3.183

2.  IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.

Authors:  Frank Oeffner; Gayle Fischer; Rudolf Happle; Arne König; Regina C Betz; Dorothea Bornholdt; Ulrike Neidel; María del Carmen Boente; Silke Redler; Javier Romero-Gomez; Aïcha Salhi; Angel Vera-Casaño; Christian Weirich; Karl-Heinz Grzeschik
Journal:  Am J Hum Genet       Date:  2009-04       Impact factor: 11.025
  2 in total

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