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Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation
Authors: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
Affiliation:Clinical Genetics Unit, Obstetric and Pediatric Department, S. Maria Nuova Hospital, Reggio Emilia, Italy.
Abstract:
Keywords:limb deficiency  WNT7A  autosomal recessive
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