De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.

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Journal

Journal ID (iso-abbrev): Am. J. Med. Genet. A

Title: American journal of medical genetics. Part A

Publisher: Wiley

ISSN (Electronic): 1552-4833

ISSN (Print): 1552-4825

Publication date (Electronic): Apr 2012

Volume: 158A

Issue: 4

Affiliations

[1 ] Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Rome, Italy.

Article

DOI: 10.1002/ajmg.a.35231

PubMed ID: 22411858

SO-VID: 4e9c2f9f-112c-4b7b-90c2-7d9c2b669b19

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