Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile

scientific article published on 01 March 2003

Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1034/J.1399-0004.2003.00047.X
P698PubMed publication ID12694234

P50authorGerard PalsQ55691135
P2093author name stringA J van Essen
H Y Kroes
P433issue3
P921main subjectEhlers-Danlos syndromeQ1141499
P304page(s)224-227
P577publication date2003-03-01
P1433published inClinical GeneticsQ5133760
P1476titleEhlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile
P478volume63

Reverse relations

cites work (P2860)
Q37287325Amniotic band constriction leading to facial asymmetry
Q36707339Ehlers-Danlos syndrome (EDS) type IV: review of the literature
Q38601552Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing
Q36866985Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

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