Literature DB >> 4017282

Dominantly inherited syndrome of microcephaly and congenital lymphedema.

A K Leung.   

Abstract

A Chinese family is reported in which microcephaly and congenital lymphedema have been observed in at least 4 generations. This combination of symptoms can be presumed to represent a rare but well defined hereditary syndrome transmitted by an autosomal dominant gene.

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Year:  1985        PMID： 4017282     DOI： 10.1111/j.1399-0004.1985.tb02047.x

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


  3 in total

1.  Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.

Authors:  Pia Ostergaard; Michael A Simpson; Antonella Mendola; Pradeep Vasudevan; Fiona C Connell; Andreas van Impel; Anthony T Moore; Bart L Loeys; Arash Ghalamkarpour; Alexandros Onoufriadis; Ines Martinez-Corral; Sophie Devery; Jules G Leroy; Lut van Laer; Amihood Singer; Martin G Bialer; Meriel McEntagart; Oliver Quarrell; Glen Brice; Richard C Trembath; Stefan Schulte-Merker; Taija Makinen; Miikka Vikkula; Peter S Mortimer; Sahar Mansour; Steve Jeffery
Journal:  Am J Hum Genet       Date:  2012-01-26       Impact factor: 11.025

2.  Autosomal dominant isolated ('uncomplicated') microcephaly.

Authors:  P Merlob; D Steier; S H Reisner
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

3.  The swollen leg and primary lymphoedema.

Authors:  N B Wright; H M Carty
Journal:  Arch Dis Child       Date:  1994-07       Impact factor: 3.791
  3 in total

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