Article
Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1.
Congenital anomalies - 1 Nov 2018
Kuroda Yukiko, Ohashi Ikuko, Naruto Takuya, Ida Kazumi, Enomoto Yumi, Saito Toshiyuki, Nagai Jun-Ichi, Kurosawa Kenji
Abstract excerpt
Ehlers-Danlos syndrome classical type is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and joint hypermobility. The condition typically results from mutations in COL5A1 or COL5A2 leading to the functional haploinsufficiency. Here, we report of a 24-year-old male with mild intellectual disability, dysmorphic features, and a phenotype consistent with Ehlers-Danlos...
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