Journal article
Absence of WNT4 gene mutation in a patient with MURCS association
Journal of Pediatric Endocrinology and Metabolism, v 27(5), pp 555-559
01 May 2014
PMID: 24356390
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
MURCS (Mullerian duct aplasia, Renal anomalies, and Cervicothoracic Somite dysplasia) association is a group of congenital genito-urinary and skeletal malformations. We report an adolescent girl with the cardinal features of MURCS association, obesity, and clinical findings of hyperandrogenism who did not show any exonic mutation of the
gene. Our finding excludes
gene as a candidate for MURCS association and suggests the need for further genetic studies.
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Details
- Title
- Absence of WNT4 gene mutation in a patient with MURCS association
- Creators
- Zohreh Shoar - Section of Pediatric Endocrinology and Diabetes, St. Christopher’s Hospital for Children, Drexel University College of Medicine, Philadelphia, PA, USATapan Ganguly - DNA Sequencing Facility, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USACarol E. Anderson - Drexel UniversityFrancesco De Luca - Section of Pediatric Endocrinology and Diabetes, St. Christopher’s Hospital for Children, Drexel University College of Medicine, Philadelphia, PA, USAElizabeth Suarez - Drexel University
- Publication Details
- Journal of Pediatric Endocrinology and Metabolism, v 27(5), pp 555-559
- Publisher
- De Gruyter
- Number of pages
- 5
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pediatrics
- Web of Science ID
- WOS:000338835600025
- Scopus ID
- 2-s2.0-84902465681
- Other Identifier
- 991019168021704721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Endocrinology & Metabolism
- Pediatrics