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Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2

EUROPEAN JOURNAL OF MEDICAL GENETICS (2013)

Journal

EUROPEAN JOURNAL OF MEDICAL GENETICS

Volume 56, Issue 6, Pages 336-339

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ELSEVIER

DOI: 10.1016/j.ejmg.2013.03.006

Keywords

Autosomal recessive cutis laxa type 2; Wrinkly skin syndrome; Gerodermia osteodysplastica; ATP6V0A2; GORAB; PYCR1

Categories

Genetics & Heredity

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