Literature DB >> 8131308

Twins and their mildly affected mother with Weaver syndrome.

M Dumić1, J Vuković, M Cvitkovic, I Medica.   

Abstract

A pair of twins, a brother and sister, with the complete form of Weaver syndrome (overgrowth, macrocephaly, facial, skeletal, nail and feet anomalies) and their mildly affected mother are reported, suggesting autosomal dominant inheritance. They all have plantar and palmar hyperhydrosis and twins also have nail dysplasia, symptoms which have not yet been described in this syndrome.

Entities:  

Mesh:

Year:  1993        PMID: 8131308     DOI: 10.1111/j.1399-0004.1993.tb03912.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  4 in total

1.  Autosomal dominant inheritance of Weaver syndrome.

Authors:  A Fryer; C Smith; L Rosenbloom; T Cole
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

2.  Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome.

Authors:  C J van Asperen; W C Overweg-Plandsoen; M H Cnossen; D A van Tijn; R C Hennekam
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

3.  Weaver syndrome associated with bilateral congenital hip and unilateral subtalar dislocation.

Authors:  P Mikalef; T Beslikas; I Gigis; I Bisbinas; T Papageorgiou; I Christoforides
Journal:  Hippokratia       Date:  2010-07       Impact factor: 0.471

4.  Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Authors:  Katrina Tatton-Brown; Sandra Hanks; Elise Ruark; Anna Zachariou; Silvana Del Vecchio Duarte; Emma Ramsay; Katie Snape; Anne Murray; Elizabeth R Perdeaux; Sheila Seal; Chey Loveday; Siddharth Banka; Carol Clericuzio; Frances Flinter; Alex Magee; Vivienne McConnell; Michael Patton; Wolfgang Raith; Julia Rankin; Miranda Splitt; Volker Strenger; Clare Taylor; Patricia Wheeler; Karen I Temple; Trevor Cole; Jenny Douglas; Nazneen Rahman
Journal:  Oncotarget       Date:  2011-12
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.