Author:
Kawabata Yoshinori,Watanabe Akira,Yamaguchi Shozaburo,Aoshima Masahiro,Shiraki Akira,Hatamochi Atushi,Kawamura Tetsuji,Uchiyama Takashi,Watanabe Atushi,Fukuda Yuh
Subject
General Medicine,Histology,Pathology and Forensic Medicine
Reference16 articles.
1. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK);Beighton;Am. J. Med. Genet.,1998
2. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular? type;Pepin;N. Engl. J. Med.,2000
3. International nosology of heritable disorders of connective tissue, Berlin, 1986;Beighton;Am. J. Med. Genet.,1988
4. A T + 6 to C + 6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV;Lloyd;J. Med. Genet.,1993
5. Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring;Milewicz;Am. J. Hum. Genet.,1993
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