PMID- 20720362
OWN - NLM
STAT- MEDLINE
DCOM- 20110519
LR  - 20190606
IS  - 1349-7235 (Electronic)
IS  - 0918-2918 (Linking)
VI  - 49
IP  - 16
DP  - 2010
TI  - Ehlers-Danlos syndrome type IV, vascular type, which demonstrated a novel point 
      mutation in the COL3A1 gene.
PG  - 1797-800
AB  - Ehlers-Danlos syndrome type IV (EDS type IV), vascular type, an autosomal 
      dominant disorder caused by a mutation of the type III procollagen gene (COL3A1) 
      is the most severe form of EDS and often presents with aortic hemorrhage or organ 
      perforation. This report discusses a male patient with EDS type IV with dyspnea 
      due to hemopneumothorax. He had thin skin and hypermobile joints and was 
      clinically confirmed as having EDS type IV. The diagnosis was genetically 
      confirmed by a mutation c.2528 G>A (p.Gly843Glu) in the COL3A1 gene. The position 
      of the mutation has never been reported.
FAU - Sadakata, Rinako
AU  - Sadakata R
AD  - Department of Respiratory Medicine, Saitama Medical University, Saitama, Japan.
FAU - Hatamochi, Atsushi
AU  - Hatamochi A
FAU - Kodama, Keiji
AU  - Kodama K
FAU - Kaga, Akiko
AU  - Kaga A
FAU - Yamaguchi, Takefumi
AU  - Yamaguchi T
FAU - Soma, Tomoyuki
AU  - Soma T
FAU - Usui, Yutaka
AU  - Usui Y
FAU - Nagata, Makoto
AU  - Nagata M
FAU - Ohtake, Akira
AU  - Ohtake A
FAU - Hagiwara, Koichi
AU  - Hagiwara K
FAU - Kanazawa, Minoru
AU  - Kanazawa M
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20100813
PL  - Japan
TA  - Intern Med
JT  - Internal medicine (Tokyo, Japan)
JID - 9204241
RN  - 0 (COL3A1 protein, human)
RN  - 0 (Collagen Type III)
SB  - IM
MH  - Collagen Type III/*genetics
MH  - Ehlers-Danlos Syndrome/*diagnosis/*genetics
MH  - Humans
MH  - Male
MH  - Point Mutation/*genetics
MH  - Young Adult
EDAT- 2010/08/20 06:00
MHDA- 2011/05/20 06:00
CRDT- 2010/08/20 06:00
PHST- 2010/08/20 06:00 [entrez]
PHST- 2010/08/20 06:00 [pubmed]
PHST- 2011/05/20 06:00 [medline]
AID - JST.JSTAGE/internalmedicine/49.3435 [pii]
AID - 10.2169/internalmedicine.49.3435 [doi]
PST - ppublish
SO  - Intern Med. 2010;49(16):1797-800. doi: 10.2169/internalmedicine.49.3435. Epub 
      2010 Aug 13.