Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss-Reference-Cited by-同舟云学术

Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

Published:2012-02 Issue:2 Volume:90 Page:201-216
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Baumann Matthias,Giunta Cecilia,Krabichler Birgit,Rüschendorf Franz,Zoppi Nicoletta,Colombi Marina,Bittner Reginald E.,Quijano-Roy Susana,Muntoni Francesco,Cirak Sebahattin,Schreiber Gudrun,Zou Yaqun,Hu Ying,Romero Norma Beatriz,Carlier Robert Yves,Amberger Albert,Deutschmann Andrea,Straub Volker,Rohrbach Marianne,Steinmann Beat,Rostásy Kevin,Karall Daniela,Bönnemann Carsten G.,Zschocke Johannes,Fauth Christine

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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5. Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA);Giunta;Am. J. Med. Genet. A.,2005

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