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Ehlers–Danlos syndromes (EDS) are a group of 13 genetic connective-tissue disorders. [7] Symptoms often include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. [ 1 ] These may be noticed at birth or in early childhood. [ 3 ]
[4] [3] These include COL6A1, COL6A2, and COL6A3. [5] [3] It is typically autosomal dominant, though uncommonly can be autosomal recessive. [3] Bethlem myopathy 2 (BTHLM2), formerly known as myopathic-type Ehlers–Danlos syndrome, is caused by a mutation on the COL12A1 gene coding for type XII collagen. [3] It is autosomal dominant. [3]
Henri-Alexandre Danlos (/ ˈ d æ n l ɒ s /, French pronunciation: [ɑ̃ʁi alɛksɑ̃dʁ(ə) dɑ̃los]; 26 March 1844 – 12 September 1912) was a French physician and dermatologist born in Paris. With Danish dermatologist Edvard Ehlers (1863-1937), the Ehlers–Danlos syndromes , which comprise a group of inherited connective-tissue ...
Preview of unit 2 showing lesson and exercises. The book is in use by English language students, especially those from non-English-speaking countries, as a practice and reference book. Though the book was titled as a self-study reference, the publisher states that the book is also suitable for reinforcement work in the classroom. [3]
Download as PDF; Printable version; In other projects ... Category for individuals who have or had Ehlers–Danlos ... Text is available under the Creative Commons ...
Occipital horn syndrome (OHS), formerly considered a variant of Ehlers–Danlos syndrome, [1] is an X-linked recessive mitochondrial and connective tissue disorder. It is caused by a deficiency in the transport of the essential mineral copper, associated with mutations in the ATP7A gene. [2] [3]
Edvard Ehlers. Edvard Laurits Ehlers (/ ˈ eɪ l ər z /, Danish pronunciation: [ˈe̝ðvɑːt ˈlɑwˀʁe̝ts ˈeːlɐs]; 26 March 1863 in Copenhagen – 7 May 1937) was a Danish dermatologist whose name was given to a group of rare genetic connective tissue disorders, known collectively as the Ehlers–Danlos syndromes (EDS), which were named, together after Henri-Alexandre Danlos from ...
The condition was originally named for German physician Georg Sack, who described a single case in 1936, [2] and British surgeon A.P. Barabas, who described two cases in 1967. [3] Barabas recognized that the condition was a form of Ehlers-Danlos syndrome, a group of inherited disorders affecting connective tissue.