Literature DB >> 21271649

Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation.

Livia Garavelli1, Anita Wischmeijer, Simonetta Rosato, Chiara Gelmini, Sandro Reverberi, Silvia Sassi, Adriano Ferrari, Francesca Mari, Bernhard Zabel, Ekkehart Lausch, Sheila Unger, Andrea Superti-Furga.   

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Year:  2010        PMID： 21271649     DOI： 10.1002/ajmg.a.33793

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


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  2 in total

1.  Santos syndrome is caused by mutation in the WNT7A gene.

Authors:  Leandro U Alves; Silvana Santos; Camila M Musso; Suzana Am Ezquina; John M Opitz; Fernando Kok; Paulo A Otto; Regina C Mingroni-Netto
Journal:  J Hum Genet       Date:  2017-08-31       Impact factor: 3.172

Review 2.  WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders.

Authors:  Yentl Huybrechts; Geert Mortier; Eveline Boudin; Wim Van Hul
Journal:  Front Endocrinol (Lausanne)       Date:  2020-04-09       Impact factor: 5.555
  2 in total

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