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Article

Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.

American journal of medical genetics. Part A - 1 Dec 2011

Lin Dar-Shong, Chang Jui-Hsing, Liu Hsuan-Liang, Wei Chin-Hung, Yeung Chun-Yan, Ho Che-Sheng, Shu Chyong-Hsin, Chiang Ming-Fu, Chuang Chih-Kuang, Huang Yu-Wen, Wu Tsu-Yen, Jian Yuan-Ren, Huang Zon-Darr, Lin Shuan-Pei

Abstract excerpt

De Barsy syndrome (DBS) is characterized by progeroid features, ophthalmological abnormalities, intrauterine growth retardation, and cutis laxa. Recently, PYCR1 mutations were identified in cutis laxa with progeroid features. Herein, we report on a DBS patient born to a nonconsanguineous Chinese family. The exceptional observation of congenital glaucoma, aortic root dilatation, and idiopathic hypertrophic pyloric...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22052856
DOI: 10.1002/ajmg.a.34326

Genes

PYCR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.PMID 22052856Read ↗

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