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

作者信息

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

机构信息

Clinical Genetics Unit, Obstetric and Pediatric Department, S. Maria Nuova Hospital, Reggio Emilia, Italy.

出版信息

Am J Med Genet A. 2011 Feb;155A(2):332-6. doi: 10.1002/ajmg.a.33793. Epub 2010 Dec 22.

DOI:10.1002/ajmg.a.33793
PMID:21271649
Abstract
摘要

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Eur J Hum Genet. 2025 Sep 6. doi: 10.1038/s41431-025-01929-3.
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WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders.WNT 信号与骨骼：骨骼发育不良和疾病的启示。
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Santos syndrome is caused by mutation in the WNT7A gene.
桑托斯综合征是由 WNT7A 基因突变引起的。
J Hum Genet. 2017 Dec;62(12):1073-1078. doi: 10.1038/jhg.2017.86. Epub 2017 Aug 31.