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Third case of a distinct variant of the Ehlers‐Danlos Syndrome (EDS)
Author(s) -
Hernández A.,
AguirreNegrete M. G.,
Liparoli J. C.,
Cantú J. M.
Publication year - 1981
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1981.tb01833.x
Subject(s) - ehlers–danlos syndrome , mutation , genetics , medicine , biology , dermatology , gene
A 16‐year‐old boy was diagnosed as having EDS. Analysis of this patient together with two previously reported cases supported a distinct variant of the EDS, probably caused by an autosomal dominant mutation.