A family with radio-ulnar synostosis, scoliosis, and thick vermilion of lips: A novel syndrome or variant of Giuffrè-Tsukahara syndrome?
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35478/fullpdf
Reference12 articles.
1. Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation;Alexis;Nat Gen,2000
2. Giuffrè-Tsukahara syndrome: Evidence for X-linked dominant inheritance and review;Ashwin;Am J Med Genet Part A,2010
3. A case of 49,XXXXX in which the extra X chromosomes were maternal in origin;Cho;J Clin Pathol,2004
4. Clinical delineation of Giuffrè-Tsukahara syndrome: Another case with microcephaly and radio-ulnar synostosis with apparent X-linked semi-dominant inheritance;Gaspar;Am J Med Genet Part A,2008
5. New syndrome: Autosomal dominant microcephaly and radio-ulnar synostosis;Giuffre;Am J Med Genet,1994
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1. Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations;Frontiers in Genetics;2022-06-06
2. Congenital middle radioulnar synostosis: Report of a probable subtype;Journal of Orthopaedic Science;2021-04
3. SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis;Genetics in Medicine;2019-11
4. BMPR1B mutation causes Pierre Robin sequence;Oncotarget;2017-03-23
5. Evidence-Based Treatments of Congenital Radio-Ulnar Synostosis;Paediatric Orthopaedics;2016-11-25
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