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Prenatal assessment of clinical phenotype by mutational screening in a family with Ehlers Danlos Syndrome type VI

✍ Scribed by Yeowell, HN; Walker, LC


Book ID
119562623
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
175 KB
Volume
16
Category
Article
ISSN
0923-1811

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The parents of a child with the clinical symptoms of Ehlers-Danlos syndrome type VI were identified as third-degree cousins. Biochemical analysis of the dermis of the patient revealed a complete lack of hydroxylysine in the dermal collagen. The dermis of both parents contained only half the amount o